nsv999789
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:194,092
- Publication(s):Coe et al. 2014
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: 772 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 772 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 165 SVs from 20 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 |
---|---|---|---|---|---|---|---|---|---|
nsv999789 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 36,128,482 | 36,322,573 |
nsv999789 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 36,355,625 | 36,549,716 |
nsv999789 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 36,209,129 | 36,403,220 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv3445342 | copy number loss | 9874737 | Oligo aCGH | Probe signal intensity | nssv3451339 |
nssv3453883 | copy number loss | 9880187 | Oligo aCGH | Probe signal intensity | nssv3480780, nssv3456895, nssv3455390 |
nssv3457010 | copy number gain | 9864687 | Oligo aCGH | Probe signal intensity | |
nssv3457687 | copy number gain | 9869911 | Oligo aCGH | Probe signal intensity | nssv3462831 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv3445342 | Remapped | Perfect | NC_000002.12:g.(?_ 36128482)_(3632257 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 36,128,482 | 36,322,573 |
nssv3453883 | Remapped | Perfect | NC_000002.12:g.(?_ 36128482)_(3632257 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 36,128,482 | 36,322,573 |
nssv3457010 | Remapped | Perfect | NC_000002.12:g.(?_ 36128482)_(3632257 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 36,128,482 | 36,322,573 |
nssv3457687 | Remapped | Perfect | NC_000002.12:g.(?_ 36128482)_(3632257 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 36,128,482 | 36,322,573 |
nssv3445342 | Remapped | Perfect | NC_000002.11:g.(?_ 36355625)_(3654971 6_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 36,355,625 | 36,549,716 |
nssv3453883 | Remapped | Perfect | NC_000002.11:g.(?_ 36355625)_(3654971 6_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 36,355,625 | 36,549,716 |
nssv3457010 | Remapped | Perfect | NC_000002.11:g.(?_ 36355625)_(3654971 6_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 36,355,625 | 36,549,716 |
nssv3457687 | Remapped | Perfect | NC_000002.11:g.(?_ 36355625)_(3654971 6_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 36,355,625 | 36,549,716 |
nssv3445342 | Submitted genomic | NC_000002.10:g.(?_ 36209129)_(3640322 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 36,209,129 | 36,403,220 | ||
nssv3453883 | Submitted genomic | NC_000002.10:g.(?_ 36209129)_(3640322 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 36,209,129 | 36,403,220 | ||
nssv3457010 | Submitted genomic | NC_000002.10:g.(?_ 36209129)_(3640322 0_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 36,209,129 | 36,403,220 | ||
nssv3457687 | Submitted genomic | NC_000002.10:g.(?_ 36209129)_(3640322 0_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 36,209,129 | 36,403,220 |