nsv1196153
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:273,565
- Publication(s):Polyak et al. 2015
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: 1617 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1470 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 592 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 486 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1196153 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 145,748,062 | 146,021,626 |
| nsv1196153 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 145,413,387 | 145,687,024 |
| nsv1196153 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,563,475 | 2,837,039 |
| nsv1196153 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 144,124,744 | 144,398,381 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7459172 | copy number loss | 18320 | Oligo aCGH | Probe signal intensity | nssv7460346 |
| nssv7459379 | copy number gain | 18959 | Oligo aCGH | Probe signal intensity | nssv7459243 |
| nssv7462471 | copy number gain | 19858 | Oligo aCGH | Probe signal intensity | nssv7462651, nssv7472497 |
| nssv7469238 | copy number loss | 29221 | Oligo aCGH | Probe signal intensity | nssv7462136 |
| nssv7471272 | copy number loss | 25048 | Oligo aCGH | Probe signal intensity | nssv7473594 |
| nssv7472834 | copy number gain | 25394 | Oligo aCGH | Probe signal intensity | nssv7462006, nssv7475002 |
| nssv7473475 | copy number gain | 6480 | Oligo aCGH | Probe signal intensity | nssv7461647, nssv7472668 |
| nssv7475475 | copy number gain | 21827 | Oligo aCGH | Probe signal intensity | nssv7460974 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7459172 | Remapped | Good | NC_000001.11:g.(?_ 145748062)_(146021 626_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,748,062 | 146,021,626 |
| nssv7459379 | Remapped | Good | NC_000001.11:g.(?_ 145748062)_(146021 626_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,748,062 | 146,021,626 |
| nssv7462471 | Remapped | Good | NC_000001.11:g.(?_ 145748062)_(146021 626_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,748,062 | 146,021,626 |
| nssv7469238 | Remapped | Good | NC_000001.11:g.(?_ 145748062)_(146021 626_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,748,062 | 146,021,626 |
| nssv7471272 | Remapped | Good | NC_000001.11:g.(?_ 145748062)_(146021 626_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,748,062 | 146,021,626 |
| nssv7472834 | Remapped | Good | NC_000001.11:g.(?_ 145748062)_(146021 626_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,748,062 | 146,021,626 |
| nssv7473475 | Remapped | Good | NC_000001.11:g.(?_ 145748062)_(146021 626_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,748,062 | 146,021,626 |
| nssv7475475 | Remapped | Good | NC_000001.11:g.(?_ 145748062)_(146021 626_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,748,062 | 146,021,626 |
| nssv7459172 | Remapped | Good | NW_003871055.3:g.( ?_2563475)_(283703 9_?)del | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,563,475 | 2,837,039 |
| nssv7459379 | Remapped | Good | NW_003871055.3:g.( ?_2563475)_(283703 9_?)dup | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,563,475 | 2,837,039 |
| nssv7462471 | Remapped | Good | NW_003871055.3:g.( ?_2563475)_(283703 9_?)dup | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,563,475 | 2,837,039 |
| nssv7469238 | Remapped | Good | NW_003871055.3:g.( ?_2563475)_(283703 9_?)del | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,563,475 | 2,837,039 |
| nssv7471272 | Remapped | Good | NW_003871055.3:g.( ?_2563475)_(283703 9_?)del | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,563,475 | 2,837,039 |
| nssv7472834 | Remapped | Good | NW_003871055.3:g.( ?_2563475)_(283703 9_?)dup | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,563,475 | 2,837,039 |
| nssv7473475 | Remapped | Good | NW_003871055.3:g.( ?_2563475)_(283703 9_?)dup | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,563,475 | 2,837,039 |
| nssv7475475 | Remapped | Good | NW_003871055.3:g.( ?_2563475)_(283703 9_?)dup | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,563,475 | 2,837,039 |
| nssv7459172 | Remapped | Perfect | NC_000001.10:g.(?_ 145413387)_(145687 024_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 145,413,387 | 145,687,024 |
| nssv7459379 | Remapped | Perfect | NC_000001.10:g.(?_ 145413387)_(145687 024_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 145,413,387 | 145,687,024 |
| nssv7462471 | Remapped | Perfect | NC_000001.10:g.(?_ 145413387)_(145687 024_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 145,413,387 | 145,687,024 |
| nssv7469238 | Remapped | Perfect | NC_000001.10:g.(?_ 145413387)_(145687 024_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 145,413,387 | 145,687,024 |
| nssv7471272 | Remapped | Perfect | NC_000001.10:g.(?_ 145413387)_(145687 024_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 145,413,387 | 145,687,024 |
| nssv7472834 | Remapped | Perfect | NC_000001.10:g.(?_ 145413387)_(145687 024_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 145,413,387 | 145,687,024 |
| nssv7473475 | Remapped | Perfect | NC_000001.10:g.(?_ 145413387)_(145687 024_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 145,413,387 | 145,687,024 |
| nssv7475475 | Remapped | Perfect | NC_000001.10:g.(?_ 145413387)_(145687 024_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 145,413,387 | 145,687,024 |
| nssv7459172 | Submitted genomic | NC_000001.9:g.(?_1 44124744)_(1443983 81_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,124,744 | 144,398,381 | ||
| nssv7459379 | Submitted genomic | NC_000001.9:g.(?_1 44124744)_(1443983 81_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,124,744 | 144,398,381 | ||
| nssv7462471 | Submitted genomic | NC_000001.9:g.(?_1 44124744)_(1443983 81_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,124,744 | 144,398,381 | ||
| nssv7469238 | Submitted genomic | NC_000001.9:g.(?_1 44124744)_(1443983 81_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,124,744 | 144,398,381 | ||
| nssv7471272 | Submitted genomic | NC_000001.9:g.(?_1 44124744)_(1443983 81_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,124,744 | 144,398,381 | ||
| nssv7472834 | Submitted genomic | NC_000001.9:g.(?_1 44124744)_(1443983 81_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,124,744 | 144,398,381 | ||
| nssv7473475 | Submitted genomic | NC_000001.9:g.(?_1 44124744)_(1443983 81_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,124,744 | 144,398,381 | ||
| nssv7475475 | Submitted genomic | NC_000001.9:g.(?_1 44124744)_(1443983 81_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,124,744 | 144,398,381 |