nsv471643
- Organism: Homo sapiens
- Study:nstd32 (Sharp et al. 2005)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:29
- Validation:Not tested
- Clinical Assertions: No
- Region Size:156,938
- Publication(s):Sharp et al. 2005
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 880 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 876 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 2 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv471643 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nsv471643 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nsv471643 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv549991 | copy number loss | GM10492A | BAC aCGH | Probe signal intensity | 47 |
| nssv549992 | copy number gain | GM10494A | BAC aCGH | Probe signal intensity | 55 |
| nssv549993 | copy number loss | GM10495B | BAC aCGH | Probe signal intensity | 45 |
| nssv549994 | copy number loss | GM10967 | BAC aCGH | Probe signal intensity | 58 |
| nssv549995 | copy number loss | GM10969 | BAC aCGH | Probe signal intensity | 51 |
| nssv549996 | copy number loss | GM10976 | BAC aCGH | Probe signal intensity | 56 |
| nssv549997 | copy number loss | GM10979 | BAC aCGH | Probe signal intensity | 65 |
| nssv549998 | copy number loss | GM11323 | BAC aCGH | Probe signal intensity | 53 |
| nssv549999 | copy number loss | GM11521 | BAC aCGH | Probe signal intensity | 49 |
| nssv550000 | copy number loss | GM11523 | BAC aCGH | Probe signal intensity | 54 |
| nssv550001 | copy number loss | GM15725 | BAC aCGH | Probe signal intensity | 50 |
| nssv550002 | copy number loss | GM15726 | BAC aCGH | Probe signal intensity | 41 |
| nssv550003 | copy number loss | GM15728 | BAC aCGH | Probe signal intensity | 33 |
| nssv550004 | copy number loss | GM15729 | BAC aCGH | Probe signal intensity | 47 |
| nssv550005 | copy number loss | GM15730 | BAC aCGH | Probe signal intensity | 49 |
| nssv550006 | copy number loss | GM15731 | BAC aCGH | Probe signal intensity | 42 |
| nssv550007 | copy number loss | GM16688 | BAC aCGH | Probe signal intensity | 44 |
| nssv550008 | copy number loss | GM16689 | BAC aCGH | Probe signal intensity | 42 |
| nssv550009 | copy number loss | GM17014A | BAC aCGH | Probe signal intensity | 61 |
| nssv550010 | copy number loss | GM17017 | BAC aCGH | Probe signal intensity | 57 |
| nssv550011 | copy number loss | GM17051 | BAC aCGH | Probe signal intensity | 54 |
| nssv550012 | copy number loss | GM17052 | BAC aCGH | Probe signal intensity | 50 |
| nssv550013 | copy number loss | GM17058 | BAC aCGH | Probe signal intensity | 54 |
| nssv550014 | copy number loss | GM17059A | BAC aCGH | Probe signal intensity | 44 |
| nssv550015 | copy number gain | JK1051A | BAC aCGH | Probe signal intensity | 53 |
| nssv550016 | copy number gain | JK1058B | BAC aCGH | Probe signal intensity | 61 |
| nssv550017 | copy number loss | JK1061 | BAC aCGH | Probe signal intensity | 51 |
| nssv550018 | copy number gain | JK1688B | BAC aCGH | Probe signal intensity | 53 |
| nssv550019 | copy number loss | P86GA | BAC aCGH | Probe signal intensity | 50 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv549991 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv549992 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv549993 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv549994 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv549995 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv549996 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv549997 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv549998 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv549999 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550000 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550001 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550002 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550003 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550004 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550005 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550006 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550007 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550008 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550009 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550010 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550011 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550012 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550013 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550014 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550015 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550016 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550017 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550018 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv550019 | Remapped | Good | NC_000007.14:g.(?_ 102562589)_(102719 526_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,562,589 | 102,719,526 |
| nssv549991 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv549992 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv549993 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv549994 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv549995 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv549996 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv549997 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv549998 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv549999 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550000 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550001 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550002 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550003 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550004 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550005 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550006 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550007 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550008 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550009 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550010 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550011 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550012 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550013 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550014 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550015 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550016 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550017 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550018 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv550019 | Remapped | Good | NC_000007.13:g.(?_ 102203036)_(102359 973_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 102,203,036 | 102,359,973 |
| nssv549991 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv549992 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)dup | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv549993 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv549994 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv549995 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv549996 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv549997 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv549998 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv549999 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550000 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550001 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550002 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550003 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550004 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550005 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550006 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550007 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550008 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550009 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550010 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550011 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550012 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550013 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550014 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550015 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)dup | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550016 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)dup | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550017 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550018 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)dup | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 | ||
| nssv550019 | Submitted genomic | NC_000007.10:g.(?_ 101763595)_(101920 490_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 101,763,595 | 101,920,490 |