nsv946612
- Organisms: Homo sapiens ssp. Denisova, Homo sapiens
- Study:nstd82 (Sudmant et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:11
- Validation:Yes
- Clinical Assertions: No
- Region Size:101,007
- Publication(s):Sudmant et al. 2013
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: 230 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 246 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 69 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 65 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv946612 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 206,309,524 | 206,410,530 |
| nsv946612 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 206,482,868 | 206,583,890 |
| nsv946612 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 300,378 | 401,384 |
| nsv946612 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 204,549,491 | 204,650,513 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1815345 | duplication | Homo_denisova-Denisova_30x | Sequencing | Read depth | 19,139 |
| nssv1815346 | duplication | HGDP01307 | Sequencing | Read depth | 17,161 |
| nssv1815347 | duplication | HGDP00521 | Sequencing | Read depth | 17,171 |
| nssv1815348 | duplication | HGDP00778 | Sequencing | Read depth | 17,185 |
| nssv1815349 | duplication | HGDP00998 | Sequencing | Read depth | 17,267 |
| nssv1815350 | duplication | HGDP01284 | Sequencing | Read depth | 17,196 |
| nssv1815351 | duplication | HGDP00456 | Sequencing | Read depth | 17,189 |
| nssv1815352 | duplication | HGDP00542 | Sequencing | Read depth | 17,157 |
| nssv1815353 | duplication | HGDP01029 | Sequencing | Read depth | 17,182 |
| nssv1815354 | duplication | HGDP00665 | Sequencing | Read depth | 17,185 |
| nssv1815355 | duplication | HGDP00927 | Sequencing | Read depth | 17,185 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1815345 | Remapped | Good | NC_000001.11:g.(?_ 206309524)_(206410 530_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 206,309,524 | 206,410,530 |
| nssv1815346 | Remapped | Good | NC_000001.11:g.(?_ 206309524)_(206410 530_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 206,309,524 | 206,410,530 |
| nssv1815347 | Remapped | Good | NC_000001.11:g.(?_ 206309524)_(206410 530_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 206,309,524 | 206,410,530 |
| nssv1815348 | Remapped | Good | NC_000001.11:g.(?_ 206309524)_(206410 530_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 206,309,524 | 206,410,530 |
| nssv1815349 | Remapped | Good | NC_000001.11:g.(?_ 206309524)_(206410 530_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 206,309,524 | 206,410,530 |
| nssv1815350 | Remapped | Good | NC_000001.11:g.(?_ 206309524)_(206410 530_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 206,309,524 | 206,410,530 |
| nssv1815351 | Remapped | Good | NC_000001.11:g.(?_ 206309524)_(206410 530_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 206,309,524 | 206,410,530 |
| nssv1815352 | Remapped | Good | NC_000001.11:g.(?_ 206309524)_(206410 530_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 206,309,524 | 206,410,530 |
| nssv1815353 | Remapped | Good | NC_000001.11:g.(?_ 206309524)_(206410 530_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 206,309,524 | 206,410,530 |
| nssv1815354 | Remapped | Good | NC_000001.11:g.(?_ 206309524)_(206410 530_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 206,309,524 | 206,410,530 |
| nssv1815355 | Remapped | Good | NC_000001.11:g.(?_ 206309524)_(206410 530_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 206,309,524 | 206,410,530 |
| nssv1815345 | Remapped | Good | NW_003871057.1:g.( ?_300378)_(401384_ ?)dup | GRCh37.p13 | Second Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 300,378 | 401,384 |
| nssv1815346 | Remapped | Good | NW_003871057.1:g.( ?_300378)_(401384_ ?)dup | GRCh37.p13 | Second Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 300,378 | 401,384 |
| nssv1815347 | Remapped | Good | NW_003871057.1:g.( ?_300378)_(401384_ ?)dup | GRCh37.p13 | Second Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 300,378 | 401,384 |
| nssv1815348 | Remapped | Good | NW_003871057.1:g.( ?_300378)_(401384_ ?)dup | GRCh37.p13 | Second Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 300,378 | 401,384 |
| nssv1815349 | Remapped | Good | NW_003871057.1:g.( ?_300378)_(401384_ ?)dup | GRCh37.p13 | Second Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 300,378 | 401,384 |
| nssv1815350 | Remapped | Good | NW_003871057.1:g.( ?_300378)_(401384_ ?)dup | GRCh37.p13 | Second Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 300,378 | 401,384 |
| nssv1815351 | Remapped | Good | NW_003871057.1:g.( ?_300378)_(401384_ ?)dup | GRCh37.p13 | Second Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 300,378 | 401,384 |
| nssv1815352 | Remapped | Good | NW_003871057.1:g.( ?_300378)_(401384_ ?)dup | GRCh37.p13 | Second Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 300,378 | 401,384 |
| nssv1815353 | Remapped | Good | NW_003871057.1:g.( ?_300378)_(401384_ ?)dup | GRCh37.p13 | Second Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 300,378 | 401,384 |
| nssv1815354 | Remapped | Good | NW_003871057.1:g.( ?_300378)_(401384_ ?)dup | GRCh37.p13 | Second Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 300,378 | 401,384 |
| nssv1815355 | Remapped | Good | NW_003871057.1:g.( ?_300378)_(401384_ ?)dup | GRCh37.p13 | Second Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 300,378 | 401,384 |
| nssv1815345 | Remapped | Perfect | NC_000001.10:g.(?_ 206482868)_(206583 890_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 206,482,868 | 206,583,890 |
| nssv1815346 | Remapped | Perfect | NC_000001.10:g.(?_ 206482868)_(206583 890_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 206,482,868 | 206,583,890 |
| nssv1815347 | Remapped | Perfect | NC_000001.10:g.(?_ 206482868)_(206583 890_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 206,482,868 | 206,583,890 |
| nssv1815348 | Remapped | Perfect | NC_000001.10:g.(?_ 206482868)_(206583 890_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 206,482,868 | 206,583,890 |
| nssv1815349 | Remapped | Perfect | NC_000001.10:g.(?_ 206482868)_(206583 890_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 206,482,868 | 206,583,890 |
| nssv1815350 | Remapped | Perfect | NC_000001.10:g.(?_ 206482868)_(206583 890_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 206,482,868 | 206,583,890 |
| nssv1815351 | Remapped | Perfect | NC_000001.10:g.(?_ 206482868)_(206583 890_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 206,482,868 | 206,583,890 |
| nssv1815352 | Remapped | Perfect | NC_000001.10:g.(?_ 206482868)_(206583 890_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 206,482,868 | 206,583,890 |
| nssv1815353 | Remapped | Perfect | NC_000001.10:g.(?_ 206482868)_(206583 890_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 206,482,868 | 206,583,890 |
| nssv1815354 | Remapped | Perfect | NC_000001.10:g.(?_ 206482868)_(206583 890_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 206,482,868 | 206,583,890 |
| nssv1815355 | Remapped | Perfect | NC_000001.10:g.(?_ 206482868)_(206583 890_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 206,482,868 | 206,583,890 |
| nssv1815345 | Submitted genomic | NC_000001.9:g.(?_2 04549491)_(2046505 13_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 204,549,491 | 204,650,513 | ||
| nssv1815346 | Submitted genomic | NC_000001.9:g.(?_2 04549491)_(2046505 13_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 204,549,491 | 204,650,513 | ||
| nssv1815347 | Submitted genomic | NC_000001.9:g.(?_2 04549491)_(2046505 13_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 204,549,491 | 204,650,513 | ||
| nssv1815348 | Submitted genomic | NC_000001.9:g.(?_2 04549491)_(2046505 13_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 204,549,491 | 204,650,513 | ||
| nssv1815349 | Submitted genomic | NC_000001.9:g.(?_2 04549491)_(2046505 13_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 204,549,491 | 204,650,513 | ||
| nssv1815350 | Submitted genomic | NC_000001.9:g.(?_2 04549491)_(2046505 13_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 204,549,491 | 204,650,513 | ||
| nssv1815351 | Submitted genomic | NC_000001.9:g.(?_2 04549491)_(2046505 13_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 204,549,491 | 204,650,513 | ||
| nssv1815352 | Submitted genomic | NC_000001.9:g.(?_2 04549491)_(2046505 13_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 204,549,491 | 204,650,513 | ||
| nssv1815353 | Submitted genomic | NC_000001.9:g.(?_2 04549491)_(2046505 13_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 204,549,491 | 204,650,513 | ||
| nssv1815354 | Submitted genomic | NC_000001.9:g.(?_2 04549491)_(2046505 13_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 204,549,491 | 204,650,513 | ||
| nssv1815355 | Submitted genomic | NC_000001.9:g.(?_2 04549491)_(2046505 13_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 204,549,491 | 204,650,513 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv1815351 | 11 | HGDP00456 | Oligo aCGH | Probe signal intensity | Pass |
| nssv1815347 | 11 | HGDP00521 | Oligo aCGH | Probe signal intensity | Pass |
| nssv1815352 | 11 | HGDP00542 | Oligo aCGH | Probe signal intensity | Pass |
| nssv1815354 | 11 | HGDP00665 | Oligo aCGH | Probe signal intensity | Pass |
| nssv1815348 | 11 | HGDP00778 | Oligo aCGH | Probe signal intensity | Pass |
| nssv1815355 | 11 | HGDP00927 | Oligo aCGH | Probe signal intensity | Pass |
| nssv1815349 | 11 | HGDP00998 | Oligo aCGH | Probe signal intensity | Pass |
| nssv1815353 | 11 | HGDP01029 | Oligo aCGH | Probe signal intensity | Pass |
| nssv1815350 | 11 | HGDP01284 | Oligo aCGH | Probe signal intensity | Pass |
| nssv1815346 | 11 | HGDP01307 | Oligo aCGH | Probe signal intensity | Pass |
| nssv1815345 | 11 | Homo_denisova-Denisova_30x | Oligo aCGH | Probe signal intensity | Pass |