nsv977992
- 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:3,570
- 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: 624 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 624 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 351 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv977992 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 70,160,785 | 70,164,354 |
| nsv977992 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 70,194,688 | 70,198,257 |
| nsv977992 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 68,752,189 | 68,755,758 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv2066153 | duplication | Homo_denisova-Denisova_30x | Sequencing | Read depth | 19,139 |
| nssv2066154 | duplication | HGDP01307 | Sequencing | Read depth | 17,161 |
| nssv2066155 | duplication | HGDP00521 | Sequencing | Read depth | 17,171 |
| nssv2066156 | duplication | HGDP00778 | Sequencing | Read depth | 17,185 |
| nssv2066157 | duplication | HGDP00998 | Sequencing | Read depth | 17,267 |
| nssv2066158 | duplication | HGDP01284 | Sequencing | Read depth | 17,196 |
| nssv2066159 | duplication | HGDP00456 | Sequencing | Read depth | 17,189 |
| nssv2066160 | duplication | HGDP00542 | Sequencing | Read depth | 17,157 |
| nssv2066161 | duplication | HGDP01029 | Sequencing | Read depth | 17,182 |
| nssv2066162 | duplication | HGDP00665 | Sequencing | Read depth | 17,185 |
| nssv2066163 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv2066153 | Remapped | Perfect | NC_000016.10:g.(?_ 70160785)_(7016435 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,160,785 | 70,164,354 |
| nssv2066154 | Remapped | Perfect | NC_000016.10:g.(?_ 70160785)_(7016435 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,160,785 | 70,164,354 |
| nssv2066155 | Remapped | Perfect | NC_000016.10:g.(?_ 70160785)_(7016435 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,160,785 | 70,164,354 |
| nssv2066156 | Remapped | Perfect | NC_000016.10:g.(?_ 70160785)_(7016435 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,160,785 | 70,164,354 |
| nssv2066157 | Remapped | Perfect | NC_000016.10:g.(?_ 70160785)_(7016435 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,160,785 | 70,164,354 |
| nssv2066158 | Remapped | Perfect | NC_000016.10:g.(?_ 70160785)_(7016435 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,160,785 | 70,164,354 |
| nssv2066159 | Remapped | Perfect | NC_000016.10:g.(?_ 70160785)_(7016435 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,160,785 | 70,164,354 |
| nssv2066160 | Remapped | Perfect | NC_000016.10:g.(?_ 70160785)_(7016435 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,160,785 | 70,164,354 |
| nssv2066161 | Remapped | Perfect | NC_000016.10:g.(?_ 70160785)_(7016435 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,160,785 | 70,164,354 |
| nssv2066162 | Remapped | Perfect | NC_000016.10:g.(?_ 70160785)_(7016435 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,160,785 | 70,164,354 |
| nssv2066163 | Remapped | Perfect | NC_000016.10:g.(?_ 70160785)_(7016435 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,160,785 | 70,164,354 |
| nssv2066153 | Remapped | Perfect | NC_000016.9:g.(?_7 0194688)_(70198257 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 70,194,688 | 70,198,257 |
| nssv2066154 | Remapped | Perfect | NC_000016.9:g.(?_7 0194688)_(70198257 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 70,194,688 | 70,198,257 |
| nssv2066155 | Remapped | Perfect | NC_000016.9:g.(?_7 0194688)_(70198257 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 70,194,688 | 70,198,257 |
| nssv2066156 | Remapped | Perfect | NC_000016.9:g.(?_7 0194688)_(70198257 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 70,194,688 | 70,198,257 |
| nssv2066157 | Remapped | Perfect | NC_000016.9:g.(?_7 0194688)_(70198257 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 70,194,688 | 70,198,257 |
| nssv2066158 | Remapped | Perfect | NC_000016.9:g.(?_7 0194688)_(70198257 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 70,194,688 | 70,198,257 |
| nssv2066159 | Remapped | Perfect | NC_000016.9:g.(?_7 0194688)_(70198257 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 70,194,688 | 70,198,257 |
| nssv2066160 | Remapped | Perfect | NC_000016.9:g.(?_7 0194688)_(70198257 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 70,194,688 | 70,198,257 |
| nssv2066161 | Remapped | Perfect | NC_000016.9:g.(?_7 0194688)_(70198257 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 70,194,688 | 70,198,257 |
| nssv2066162 | Remapped | Perfect | NC_000016.9:g.(?_7 0194688)_(70198257 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 70,194,688 | 70,198,257 |
| nssv2066163 | Remapped | Perfect | NC_000016.9:g.(?_7 0194688)_(70198257 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 70,194,688 | 70,198,257 |
| nssv2066153 | Submitted genomic | NC_000016.8:g.(?_6 8752189)_(68755758 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 68,752,189 | 68,755,758 | ||
| nssv2066154 | Submitted genomic | NC_000016.8:g.(?_6 8752189)_(68755758 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 68,752,189 | 68,755,758 | ||
| nssv2066155 | Submitted genomic | NC_000016.8:g.(?_6 8752189)_(68755758 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 68,752,189 | 68,755,758 | ||
| nssv2066156 | Submitted genomic | NC_000016.8:g.(?_6 8752189)_(68755758 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 68,752,189 | 68,755,758 | ||
| nssv2066157 | Submitted genomic | NC_000016.8:g.(?_6 8752189)_(68755758 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 68,752,189 | 68,755,758 | ||
| nssv2066158 | Submitted genomic | NC_000016.8:g.(?_6 8752189)_(68755758 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 68,752,189 | 68,755,758 | ||
| nssv2066159 | Submitted genomic | NC_000016.8:g.(?_6 8752189)_(68755758 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 68,752,189 | 68,755,758 | ||
| nssv2066160 | Submitted genomic | NC_000016.8:g.(?_6 8752189)_(68755758 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 68,752,189 | 68,755,758 | ||
| nssv2066161 | Submitted genomic | NC_000016.8:g.(?_6 8752189)_(68755758 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 68,752,189 | 68,755,758 | ||
| nssv2066162 | Submitted genomic | NC_000016.8:g.(?_6 8752189)_(68755758 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 68,752,189 | 68,755,758 | ||
| nssv2066163 | Submitted genomic | NC_000016.8:g.(?_6 8752189)_(68755758 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 68,752,189 | 68,755,758 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv2066159 | 11 | HGDP00456 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2066155 | 11 | HGDP00521 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2066160 | 11 | HGDP00542 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2066162 | 11 | HGDP00665 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2066156 | 11 | HGDP00778 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2066163 | 11 | HGDP00927 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2066157 | 11 | HGDP00998 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2066161 | 11 | HGDP01029 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2066158 | 11 | HGDP01284 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2066154 | 11 | HGDP01307 | Oligo aCGH | Probe signal intensity | Pass |
| nssv2066153 | 11 | Homo_denisova-Denisova_30x | Oligo aCGH | Probe signal intensity | Pass |