nsv961809
- 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:113,871
- 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: 355 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 357 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 149 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv961809 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 87,848,435 | 87,962,305 |
| nsv961809 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 88,147,954 | 88,261,824 |
| nsv961809 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 87,929,069 | 88,042,939 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv2181109 | duplication | Homo_denisova-Denisova_30x | Sequencing | Read depth | 19,139 |
| nssv2181110 | duplication | HGDP01307 | Sequencing | Read depth | 17,161 |
| nssv2181111 | duplication | HGDP00521 | Sequencing | Read depth | 17,171 |
| nssv2181112 | duplication | HGDP00778 | Sequencing | Read depth | 17,185 |
| nssv2181113 | duplication | HGDP00998 | Sequencing | Read depth | 17,267 |
| nssv2181114 | duplication | HGDP01284 | Sequencing | Read depth | 17,196 |
| nssv2181115 | duplication | HGDP00456 | Sequencing | Read depth | 17,189 |
| nssv2181116 | duplication | HGDP00542 | Sequencing | Read depth | 17,157 |
| nssv2181117 | duplication | HGDP01029 | Sequencing | Read depth | 17,182 |
| nssv2181118 | duplication | HGDP00665 | Sequencing | Read depth | 17,185 |
| nssv2181119 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv2181109 | Remapped | Perfect | NC_000002.12:g.(?_ 87848435)_(8796230 5_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,848,435 | 87,962,305 |
| nssv2181110 | Remapped | Perfect | NC_000002.12:g.(?_ 87848435)_(8796230 5_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,848,435 | 87,962,305 |
| nssv2181111 | Remapped | Perfect | NC_000002.12:g.(?_ 87848435)_(8796230 5_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,848,435 | 87,962,305 |
| nssv2181112 | Remapped | Perfect | NC_000002.12:g.(?_ 87848435)_(8796230 5_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,848,435 | 87,962,305 |
| nssv2181113 | Remapped | Perfect | NC_000002.12:g.(?_ 87848435)_(8796230 5_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,848,435 | 87,962,305 |
| nssv2181114 | Remapped | Perfect | NC_000002.12:g.(?_ 87848435)_(8796230 5_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,848,435 | 87,962,305 |
| nssv2181115 | Remapped | Perfect | NC_000002.12:g.(?_ 87848435)_(8796230 5_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,848,435 | 87,962,305 |
| nssv2181116 | Remapped | Perfect | NC_000002.12:g.(?_ 87848435)_(8796230 5_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,848,435 | 87,962,305 |
| nssv2181117 | Remapped | Perfect | NC_000002.12:g.(?_ 87848435)_(8796230 5_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,848,435 | 87,962,305 |
| nssv2181118 | Remapped | Perfect | NC_000002.12:g.(?_ 87848435)_(8796230 5_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,848,435 | 87,962,305 |
| nssv2181119 | Remapped | Perfect | NC_000002.12:g.(?_ 87848435)_(8796230 5_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,848,435 | 87,962,305 |
| nssv2181109 | Remapped | Perfect | NC_000002.11:g.(?_ 88147954)_(8826182 4_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 88,147,954 | 88,261,824 |
| nssv2181110 | Remapped | Perfect | NC_000002.11:g.(?_ 88147954)_(8826182 4_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 88,147,954 | 88,261,824 |
| nssv2181111 | Remapped | Perfect | NC_000002.11:g.(?_ 88147954)_(8826182 4_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 88,147,954 | 88,261,824 |
| nssv2181112 | Remapped | Perfect | NC_000002.11:g.(?_ 88147954)_(8826182 4_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 88,147,954 | 88,261,824 |
| nssv2181113 | Remapped | Perfect | NC_000002.11:g.(?_ 88147954)_(8826182 4_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 88,147,954 | 88,261,824 |
| nssv2181114 | Remapped | Perfect | NC_000002.11:g.(?_ 88147954)_(8826182 4_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 88,147,954 | 88,261,824 |
| nssv2181115 | Remapped | Perfect | NC_000002.11:g.(?_ 88147954)_(8826182 4_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 88,147,954 | 88,261,824 |
| nssv2181116 | Remapped | Perfect | NC_000002.11:g.(?_ 88147954)_(8826182 4_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 88,147,954 | 88,261,824 |
| nssv2181117 | Remapped | Perfect | NC_000002.11:g.(?_ 88147954)_(8826182 4_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 88,147,954 | 88,261,824 |
| nssv2181118 | Remapped | Perfect | NC_000002.11:g.(?_ 88147954)_(8826182 4_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 88,147,954 | 88,261,824 |
| nssv2181119 | Remapped | Perfect | NC_000002.11:g.(?_ 88147954)_(8826182 4_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 88,147,954 | 88,261,824 |
| nssv2181109 | Submitted genomic | NC_000002.10:g.(?_ 87929069)_(8804293 9_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,929,069 | 88,042,939 | ||
| nssv2181110 | Submitted genomic | NC_000002.10:g.(?_ 87929069)_(8804293 9_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,929,069 | 88,042,939 | ||
| nssv2181111 | Submitted genomic | NC_000002.10:g.(?_ 87929069)_(8804293 9_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,929,069 | 88,042,939 | ||
| nssv2181112 | Submitted genomic | NC_000002.10:g.(?_ 87929069)_(8804293 9_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,929,069 | 88,042,939 | ||
| nssv2181113 | Submitted genomic | NC_000002.10:g.(?_ 87929069)_(8804293 9_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,929,069 | 88,042,939 | ||
| nssv2181114 | Submitted genomic | NC_000002.10:g.(?_ 87929069)_(8804293 9_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,929,069 | 88,042,939 | ||
| nssv2181115 | Submitted genomic | NC_000002.10:g.(?_ 87929069)_(8804293 9_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,929,069 | 88,042,939 | ||
| nssv2181116 | Submitted genomic | NC_000002.10:g.(?_ 87929069)_(8804293 9_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,929,069 | 88,042,939 | ||
| nssv2181117 | Submitted genomic | NC_000002.10:g.(?_ 87929069)_(8804293 9_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,929,069 | 88,042,939 | ||
| nssv2181118 | Submitted genomic | NC_000002.10:g.(?_ 87929069)_(8804293 9_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,929,069 | 88,042,939 | ||
| nssv2181119 | Submitted genomic | NC_000002.10:g.(?_ 87929069)_(8804293 9_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,929,069 | 88,042,939 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv2181115 | 11 | HGDP00456 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2181111 | 11 | HGDP00521 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2181116 | 11 | HGDP00542 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2181118 | 11 | HGDP00665 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2181112 | 11 | HGDP00778 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2181119 | 11 | HGDP00927 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2181113 | 11 | HGDP00998 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2181117 | 11 | HGDP01029 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2181114 | 11 | HGDP01284 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2181110 | 11 | HGDP01307 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2181109 | 11 | Homo_denisova-Denisova_30x | Oligo aCGH | Probe signal intensity | Pass |