nsv471709
- Organism: Homo sapiens
- Study:nstd32 (Sharp et al. 2005)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:177,716
- 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: 586 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 544 SVs from 62 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv471709 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 15,721,068 | 15,898,783 |
| nsv471709 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 16,093,477 | 16,256,895 |
| nsv471709 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000022.7 | Chr22 | 14,459,180 | 14,636,895 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv550690 | copy number gain | GM10469A | BAC aCGH | Probe signal intensity | 56 |
| nssv550691 | copy number loss | GM10493 | BAC aCGH | Probe signal intensity | 65 |
| nssv550692 | copy number gain | GM10495B | BAC aCGH | Probe signal intensity | 45 |
| nssv550693 | copy number loss | GM10496A | BAC aCGH | Probe signal intensity | 59 |
| nssv550694 | copy number gain | GM10967 | BAC aCGH | Probe signal intensity | 58 |
| nssv550695 | copy number gain | GM10969 | BAC aCGH | Probe signal intensity | 51 |
| nssv550696 | copy number loss | GM10970 | BAC aCGH | Probe signal intensity | 55 |
| nssv550697 | copy number loss | GM10971 | BAC aCGH | Probe signal intensity | 56 |
| nssv550698 | copy number loss | GM15729 | BAC aCGH | Probe signal intensity | 47 |
| nssv550699 | copy number loss | GM15732 | BAC aCGH | Probe signal intensity | 56 |
| nssv550700 | copy number gain | GM15733 | BAC aCGH | Probe signal intensity | 51 |
| nssv550701 | copy number loss | GM17014A | BAC aCGH | Probe signal intensity | 61 |
| nssv550702 | copy number loss | GM17052 | BAC aCGH | Probe signal intensity | 50 |
| nssv550703 | copy number gain | JK1051A | BAC aCGH | Probe signal intensity | 53 |
| nssv550704 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv550690 | Remapped | Perfect | NC_000022.11:g.(?_ 15721068)_(1589878 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,721,068 | 15,898,783 |
| nssv550691 | Remapped | Perfect | NC_000022.11:g.(?_ 15721068)_(1589878 3_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,721,068 | 15,898,783 |
| nssv550692 | Remapped | Perfect | NC_000022.11:g.(?_ 15721068)_(1589878 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,721,068 | 15,898,783 |
| nssv550693 | Remapped | Perfect | NC_000022.11:g.(?_ 15721068)_(1589878 3_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,721,068 | 15,898,783 |
| nssv550694 | Remapped | Perfect | NC_000022.11:g.(?_ 15721068)_(1589878 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,721,068 | 15,898,783 |
| nssv550695 | Remapped | Perfect | NC_000022.11:g.(?_ 15721068)_(1589878 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,721,068 | 15,898,783 |
| nssv550696 | Remapped | Perfect | NC_000022.11:g.(?_ 15721068)_(1589878 3_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,721,068 | 15,898,783 |
| nssv550697 | Remapped | Perfect | NC_000022.11:g.(?_ 15721068)_(1589878 3_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,721,068 | 15,898,783 |
| nssv550698 | Remapped | Perfect | NC_000022.11:g.(?_ 15721068)_(1589878 3_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,721,068 | 15,898,783 |
| nssv550699 | Remapped | Perfect | NC_000022.11:g.(?_ 15721068)_(1589878 3_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,721,068 | 15,898,783 |
| nssv550700 | Remapped | Perfect | NC_000022.11:g.(?_ 15721068)_(1589878 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,721,068 | 15,898,783 |
| nssv550701 | Remapped | Perfect | NC_000022.11:g.(?_ 15721068)_(1589878 3_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,721,068 | 15,898,783 |
| nssv550702 | Remapped | Perfect | NC_000022.11:g.(?_ 15721068)_(1589878 3_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,721,068 | 15,898,783 |
| nssv550703 | Remapped | Perfect | NC_000022.11:g.(?_ 15721068)_(1589878 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,721,068 | 15,898,783 |
| nssv550704 | Remapped | Perfect | NC_000022.11:g.(?_ 15721068)_(1589878 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,721,068 | 15,898,783 |
| nssv550690 | Remapped | Pass | NC_000022.10:g.(?_ 16093477)_(1625689 5_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,093,477 | 16,256,895 |
| nssv550691 | Remapped | Pass | NC_000022.10:g.(?_ 16093477)_(1625689 5_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,093,477 | 16,256,895 |
| nssv550692 | Remapped | Pass | NC_000022.10:g.(?_ 16093477)_(1625689 5_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,093,477 | 16,256,895 |
| nssv550693 | Remapped | Pass | NC_000022.10:g.(?_ 16093477)_(1625689 5_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,093,477 | 16,256,895 |
| nssv550694 | Remapped | Pass | NC_000022.10:g.(?_ 16093477)_(1625689 5_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,093,477 | 16,256,895 |
| nssv550695 | Remapped | Pass | NC_000022.10:g.(?_ 16093477)_(1625689 5_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,093,477 | 16,256,895 |
| nssv550696 | Remapped | Pass | NC_000022.10:g.(?_ 16093477)_(1625689 5_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,093,477 | 16,256,895 |
| nssv550697 | Remapped | Pass | NC_000022.10:g.(?_ 16093477)_(1625689 5_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,093,477 | 16,256,895 |
| nssv550698 | Remapped | Pass | NC_000022.10:g.(?_ 16093477)_(1625689 5_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,093,477 | 16,256,895 |
| nssv550699 | Remapped | Pass | NC_000022.10:g.(?_ 16093477)_(1625689 5_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,093,477 | 16,256,895 |
| nssv550700 | Remapped | Pass | NC_000022.10:g.(?_ 16093477)_(1625689 5_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,093,477 | 16,256,895 |
| nssv550701 | Remapped | Pass | NC_000022.10:g.(?_ 16093477)_(1625689 5_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,093,477 | 16,256,895 |
| nssv550702 | Remapped | Pass | NC_000022.10:g.(?_ 16093477)_(1625689 5_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,093,477 | 16,256,895 |
| nssv550703 | Remapped | Pass | NC_000022.10:g.(?_ 16093477)_(1625689 5_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,093,477 | 16,256,895 |
| nssv550704 | Remapped | Pass | NC_000022.10:g.(?_ 16093477)_(1625689 5_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,093,477 | 16,256,895 |
| nssv550690 | Submitted genomic | NC_000022.7:g.(?_1 4459180)_(14636895 _?)dup | NCBI34 (hg16) | NC_000022.7 | Chr22 | 14,459,180 | 14,636,895 | ||
| nssv550691 | Submitted genomic | NC_000022.7:g.(?_1 4459180)_(14636895 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 14,459,180 | 14,636,895 | ||
| nssv550692 | Submitted genomic | NC_000022.7:g.(?_1 4459180)_(14636895 _?)dup | NCBI34 (hg16) | NC_000022.7 | Chr22 | 14,459,180 | 14,636,895 | ||
| nssv550693 | Submitted genomic | NC_000022.7:g.(?_1 4459180)_(14636895 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 14,459,180 | 14,636,895 | ||
| nssv550694 | Submitted genomic | NC_000022.7:g.(?_1 4459180)_(14636895 _?)dup | NCBI34 (hg16) | NC_000022.7 | Chr22 | 14,459,180 | 14,636,895 | ||
| nssv550695 | Submitted genomic | NC_000022.7:g.(?_1 4459180)_(14636895 _?)dup | NCBI34 (hg16) | NC_000022.7 | Chr22 | 14,459,180 | 14,636,895 | ||
| nssv550696 | Submitted genomic | NC_000022.7:g.(?_1 4459180)_(14636895 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 14,459,180 | 14,636,895 | ||
| nssv550697 | Submitted genomic | NC_000022.7:g.(?_1 4459180)_(14636895 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 14,459,180 | 14,636,895 | ||
| nssv550698 | Submitted genomic | NC_000022.7:g.(?_1 4459180)_(14636895 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 14,459,180 | 14,636,895 | ||
| nssv550699 | Submitted genomic | NC_000022.7:g.(?_1 4459180)_(14636895 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 14,459,180 | 14,636,895 | ||
| nssv550700 | Submitted genomic | NC_000022.7:g.(?_1 4459180)_(14636895 _?)dup | NCBI34 (hg16) | NC_000022.7 | Chr22 | 14,459,180 | 14,636,895 | ||
| nssv550701 | Submitted genomic | NC_000022.7:g.(?_1 4459180)_(14636895 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 14,459,180 | 14,636,895 | ||
| nssv550702 | Submitted genomic | NC_000022.7:g.(?_1 4459180)_(14636895 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 14,459,180 | 14,636,895 | ||
| nssv550703 | Submitted genomic | NC_000022.7:g.(?_1 4459180)_(14636895 _?)dup | NCBI34 (hg16) | NC_000022.7 | Chr22 | 14,459,180 | 14,636,895 | ||
| nssv550704 | Submitted genomic | NC_000022.7:g.(?_1 4459180)_(14636895 _?)dup | NCBI34 (hg16) | NC_000022.7 | Chr22 | 14,459,180 | 14,636,895 |