nsv3212767
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,792
- Publication(s):Chaisson et al. 2019
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: 1590 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1590 SVs from 93 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3212767 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 25,405,264 (-329, +329) | 25,429,055 (-329, +329) | ||
nsv3212767 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 25,801,231 (-329, +329) | 25,825,022 (-329, +329) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14304707 | duplication | HG00512 | Sequencing | Sequence alignment | 3 | 13,827 |
nssv14304708 | duplication | SAMN00006466 | Sequencing | Sequence alignment | 2 | 14,137 |
nssv14304709 | duplication | HG00514 | Sequencing | Sequence alignment | 3 | 39,861 |
nssv14304710 | duplication | SAMN00006579 | Sequencing | Sequence alignment | 2 | 13,953 |
nssv14304711 | duplication | SAMN00006580 | Sequencing | Sequence alignment | 2 | 14,212 |
nssv14304712 | duplication | SAMN00006581 | Sequencing | Sequence alignment | 2 | 41,185 |
nssv14304713 | duplication | SAMN00001694 | Sequencing | Sequence alignment | 2 | 16,419 |
nssv14304714 | duplication | SAMN00001695 | Sequencing | Sequence alignment | 2 | 15,732 |
nssv14304715 | duplication | SAMN00001696 | Sequencing | Sequence alignment | 2 | 45,591 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14304707 | Submitted genomic | NC_000022.11:g.(25 404935_25405593)_( 25428726_25429384) dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 25,405,264 (-329, +329) | 25,429,055 (-329, +329) | ||
nssv14304708 | Submitted genomic | NC_000022.11:g.(25 404935_25405593)_( 25428726_25429384) dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 25,405,264 (-329, +329) | 25,429,055 (-329, +329) | ||
nssv14304709 | Submitted genomic | NC_000022.11:g.(25 404935_25405593)_( 25428726_25429384) dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 25,405,264 (-329, +329) | 25,429,055 (-329, +329) | ||
nssv14304710 | Submitted genomic | NC_000022.11:g.(25 404935_25405593)_( 25428726_25429384) dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 25,405,264 (-329, +329) | 25,429,055 (-329, +329) | ||
nssv14304711 | Submitted genomic | NC_000022.11:g.(25 404935_25405593)_( 25428726_25429384) dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 25,405,264 (-329, +329) | 25,429,055 (-329, +329) | ||
nssv14304712 | Submitted genomic | NC_000022.11:g.(25 404935_25405593)_( 25428726_25429384) dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 25,405,264 (-329, +329) | 25,429,055 (-329, +329) | ||
nssv14304713 | Submitted genomic | NC_000022.11:g.(25 404935_25405593)_( 25428726_25429384) dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 25,405,264 (-329, +329) | 25,429,055 (-329, +329) | ||
nssv14304714 | Submitted genomic | NC_000022.11:g.(25 404935_25405593)_( 25428726_25429384) dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 25,405,264 (-329, +329) | 25,429,055 (-329, +329) | ||
nssv14304715 | Submitted genomic | NC_000022.11:g.(25 404935_25405593)_( 25428726_25429384) dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 25,405,264 (-329, +329) | 25,429,055 (-329, +329) | ||
nssv14304707 | Remapped | Perfect | NC_000022.10:g.(25 800902_25801560)_( 25824693_25825351) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 25,801,231 (-329, +329) | 25,825,022 (-329, +329) |
nssv14304708 | Remapped | Perfect | NC_000022.10:g.(25 800902_25801560)_( 25824693_25825351) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 25,801,231 (-329, +329) | 25,825,022 (-329, +329) |
nssv14304709 | Remapped | Perfect | NC_000022.10:g.(25 800902_25801560)_( 25824693_25825351) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 25,801,231 (-329, +329) | 25,825,022 (-329, +329) |
nssv14304710 | Remapped | Perfect | NC_000022.10:g.(25 800902_25801560)_( 25824693_25825351) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 25,801,231 (-329, +329) | 25,825,022 (-329, +329) |
nssv14304711 | Remapped | Perfect | NC_000022.10:g.(25 800902_25801560)_( 25824693_25825351) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 25,801,231 (-329, +329) | 25,825,022 (-329, +329) |
nssv14304712 | Remapped | Perfect | NC_000022.10:g.(25 800902_25801560)_( 25824693_25825351) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 25,801,231 (-329, +329) | 25,825,022 (-329, +329) |
nssv14304713 | Remapped | Perfect | NC_000022.10:g.(25 800902_25801560)_( 25824693_25825351) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 25,801,231 (-329, +329) | 25,825,022 (-329, +329) |
nssv14304714 | Remapped | Perfect | NC_000022.10:g.(25 800902_25801560)_( 25824693_25825351) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 25,801,231 (-329, +329) | 25,825,022 (-329, +329) |
nssv14304715 | Remapped | Perfect | NC_000022.10:g.(25 800902_25801560)_( 25824693_25825351) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 25,801,231 (-329, +329) | 25,825,022 (-329, +329) |