nsv471696
- Organism: Homo sapiens
- Study:nstd32 (Sharp et al. 2005)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:178,979
- 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: 677 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 677 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv471696 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 13,571,274 | 13,750,252 |
| nsv471696 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 13,474,591 | 13,653,569 |
| nsv471696 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000017.8 | Chr17 | 13,675,157 | 13,854,135 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv549979 | copy number loss | GM10473A | BAC aCGH | Probe signal intensity | 44 |
| nssv549980 | copy number gain | GM11323 | BAC aCGH | Probe signal intensity | 53 |
| nssv549981 | copy number gain | GM15726 | BAC aCGH | Probe signal intensity | 41 |
| nssv549982 | copy number gain | GM15731 | BAC aCGH | Probe signal intensity | 42 |
| nssv549983 | copy number gain | GM15733 | BAC aCGH | Probe signal intensity | 51 |
| nssv549984 | copy number gain | GM16688 | BAC aCGH | Probe signal intensity | 44 |
| nssv549985 | copy number gain | GM16689 | BAC aCGH | Probe signal intensity | 42 |
| nssv549986 | copy number gain | GM17015 | BAC aCGH | Probe signal intensity | 60 |
| nssv549987 | copy number gain | GM17052 | BAC aCGH | Probe signal intensity | 50 |
| nssv549988 | copy number gain | GM17059A | BAC aCGH | Probe signal intensity | 44 |
| nssv549989 | copy number loss | JK1688B | BAC aCGH | Probe signal intensity | 53 |
| nssv549990 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv549979 | Remapped | Perfect | NC_000017.11:g.(?_ 13571274)_(1375025 2_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,274 | 13,750,252 |
| nssv549980 | Remapped | Perfect | NC_000017.11:g.(?_ 13571274)_(1375025 2_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,274 | 13,750,252 |
| nssv549981 | Remapped | Perfect | NC_000017.11:g.(?_ 13571274)_(1375025 2_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,274 | 13,750,252 |
| nssv549982 | Remapped | Perfect | NC_000017.11:g.(?_ 13571274)_(1375025 2_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,274 | 13,750,252 |
| nssv549983 | Remapped | Perfect | NC_000017.11:g.(?_ 13571274)_(1375025 2_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,274 | 13,750,252 |
| nssv549984 | Remapped | Perfect | NC_000017.11:g.(?_ 13571274)_(1375025 2_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,274 | 13,750,252 |
| nssv549985 | Remapped | Perfect | NC_000017.11:g.(?_ 13571274)_(1375025 2_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,274 | 13,750,252 |
| nssv549986 | Remapped | Perfect | NC_000017.11:g.(?_ 13571274)_(1375025 2_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,274 | 13,750,252 |
| nssv549987 | Remapped | Perfect | NC_000017.11:g.(?_ 13571274)_(1375025 2_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,274 | 13,750,252 |
| nssv549988 | Remapped | Perfect | NC_000017.11:g.(?_ 13571274)_(1375025 2_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,274 | 13,750,252 |
| nssv549989 | Remapped | Perfect | NC_000017.11:g.(?_ 13571274)_(1375025 2_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,274 | 13,750,252 |
| nssv549990 | Remapped | Perfect | NC_000017.11:g.(?_ 13571274)_(1375025 2_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 13,571,274 | 13,750,252 |
| nssv549979 | Remapped | Perfect | NC_000017.10:g.(?_ 13474591)_(1365356 9_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,591 | 13,653,569 |
| nssv549980 | Remapped | Perfect | NC_000017.10:g.(?_ 13474591)_(1365356 9_?)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,591 | 13,653,569 |
| nssv549981 | Remapped | Perfect | NC_000017.10:g.(?_ 13474591)_(1365356 9_?)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,591 | 13,653,569 |
| nssv549982 | Remapped | Perfect | NC_000017.10:g.(?_ 13474591)_(1365356 9_?)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,591 | 13,653,569 |
| nssv549983 | Remapped | Perfect | NC_000017.10:g.(?_ 13474591)_(1365356 9_?)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,591 | 13,653,569 |
| nssv549984 | Remapped | Perfect | NC_000017.10:g.(?_ 13474591)_(1365356 9_?)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,591 | 13,653,569 |
| nssv549985 | Remapped | Perfect | NC_000017.10:g.(?_ 13474591)_(1365356 9_?)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,591 | 13,653,569 |
| nssv549986 | Remapped | Perfect | NC_000017.10:g.(?_ 13474591)_(1365356 9_?)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,591 | 13,653,569 |
| nssv549987 | Remapped | Perfect | NC_000017.10:g.(?_ 13474591)_(1365356 9_?)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,591 | 13,653,569 |
| nssv549988 | Remapped | Perfect | NC_000017.10:g.(?_ 13474591)_(1365356 9_?)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,591 | 13,653,569 |
| nssv549989 | Remapped | Perfect | NC_000017.10:g.(?_ 13474591)_(1365356 9_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,591 | 13,653,569 |
| nssv549990 | Remapped | Perfect | NC_000017.10:g.(?_ 13474591)_(1365356 9_?)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 13,474,591 | 13,653,569 |
| nssv549979 | Submitted genomic | NC_000017.8:g.(?_1 3675157)_(13854135 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,157 | 13,854,135 | ||
| nssv549980 | Submitted genomic | NC_000017.8:g.(?_1 3675157)_(13854135 _?)dup | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,157 | 13,854,135 | ||
| nssv549981 | Submitted genomic | NC_000017.8:g.(?_1 3675157)_(13854135 _?)dup | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,157 | 13,854,135 | ||
| nssv549982 | Submitted genomic | NC_000017.8:g.(?_1 3675157)_(13854135 _?)dup | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,157 | 13,854,135 | ||
| nssv549983 | Submitted genomic | NC_000017.8:g.(?_1 3675157)_(13854135 _?)dup | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,157 | 13,854,135 | ||
| nssv549984 | Submitted genomic | NC_000017.8:g.(?_1 3675157)_(13854135 _?)dup | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,157 | 13,854,135 | ||
| nssv549985 | Submitted genomic | NC_000017.8:g.(?_1 3675157)_(13854135 _?)dup | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,157 | 13,854,135 | ||
| nssv549986 | Submitted genomic | NC_000017.8:g.(?_1 3675157)_(13854135 _?)dup | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,157 | 13,854,135 | ||
| nssv549987 | Submitted genomic | NC_000017.8:g.(?_1 3675157)_(13854135 _?)dup | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,157 | 13,854,135 | ||
| nssv549988 | Submitted genomic | NC_000017.8:g.(?_1 3675157)_(13854135 _?)dup | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,157 | 13,854,135 | ||
| nssv549989 | Submitted genomic | NC_000017.8:g.(?_1 3675157)_(13854135 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,157 | 13,854,135 | ||
| nssv549990 | Submitted genomic | NC_000017.8:g.(?_1 3675157)_(13854135 _?)dup | NCBI34 (hg16) | NC_000017.8 | Chr17 | 13,675,157 | 13,854,135 |