nsv3199093
- 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:127,429
- 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: 234 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 108 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 | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3199093 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 120,191,935 (-2520, +2520) | 120,319,363 (-2520, +2520) | ||
nsv3199093 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 263,509 (-2520, +2520) | 390,937 (-2520, +2520) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14291147 | duplication | HG00512 | Sequencing | Sequence alignment | 6 | 13,827 |
nssv14291148 | duplication | SAMN00006466 | Sequencing | Sequence alignment | 8 | 14,137 |
nssv14291149 | duplication | HG00514 | Sequencing | Sequence alignment | 7 | 39,861 |
nssv14291150 | duplication | SAMN00006579 | Sequencing | Sequence alignment | 7 | 13,953 |
nssv14291151 | duplication | SAMN00006580 | Sequencing | Sequence alignment | 7 | 14,212 |
nssv14291152 | duplication | SAMN00006581 | Sequencing | Sequence alignment | 8 | 41,185 |
nssv14291153 | duplication | SAMN00001694 | Sequencing | Sequence alignment | 8 | 16,419 |
nssv14291154 | duplication | SAMN00001695 | Sequencing | Sequence alignment | 7 | 15,732 |
nssv14291155 | duplication | SAMN00001696 | Sequencing | Sequence alignment | 8 | 45,591 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14291147 | Submitted genomic | NC_000001.11:g.(12 0189415_120194455) _(120316843_120321 883)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 120,191,935 (-2520, +2520) | 120,319,363 (-2520, +2520) | ||
nssv14291148 | Submitted genomic | NC_000001.11:g.(12 0189415_120194455) _(120316843_120321 883)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 120,191,935 (-2520, +2520) | 120,319,363 (-2520, +2520) | ||
nssv14291149 | Submitted genomic | NC_000001.11:g.(12 0189415_120194455) _(120316843_120321 883)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 120,191,935 (-2520, +2520) | 120,319,363 (-2520, +2520) | ||
nssv14291150 | Submitted genomic | NC_000001.11:g.(12 0189415_120194455) _(120316843_120321 883)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 120,191,935 (-2520, +2520) | 120,319,363 (-2520, +2520) | ||
nssv14291151 | Submitted genomic | NC_000001.11:g.(12 0189415_120194455) _(120316843_120321 883)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 120,191,935 (-2520, +2520) | 120,319,363 (-2520, +2520) | ||
nssv14291152 | Submitted genomic | NC_000001.11:g.(12 0189415_120194455) _(120316843_120321 883)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 120,191,935 (-2520, +2520) | 120,319,363 (-2520, +2520) | ||
nssv14291153 | Submitted genomic | NC_000001.11:g.(12 0189415_120194455) _(120316843_120321 883)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 120,191,935 (-2520, +2520) | 120,319,363 (-2520, +2520) | ||
nssv14291154 | Submitted genomic | NC_000001.11:g.(12 0189415_120194455) _(120316843_120321 883)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 120,191,935 (-2520, +2520) | 120,319,363 (-2520, +2520) | ||
nssv14291155 | Submitted genomic | NC_000001.11:g.(12 0189415_120194455) _(120316843_120321 883)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 120,191,935 (-2520, +2520) | 120,319,363 (-2520, +2520) | ||
nssv14291147 | Remapped | Perfect | NW_003871056.3:g.( 260989_266029)_(38 8417_393457)dup | GRCh37.p13 | First Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 263,509 (-2520, +2520) | 390,937 (-2520, +2520) |
nssv14291148 | Remapped | Perfect | NW_003871056.3:g.( 260989_266029)_(38 8417_393457)dup | GRCh37.p13 | First Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 263,509 (-2520, +2520) | 390,937 (-2520, +2520) |
nssv14291149 | Remapped | Perfect | NW_003871056.3:g.( 260989_266029)_(38 8417_393457)dup | GRCh37.p13 | First Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 263,509 (-2520, +2520) | 390,937 (-2520, +2520) |
nssv14291150 | Remapped | Perfect | NW_003871056.3:g.( 260989_266029)_(38 8417_393457)dup | GRCh37.p13 | First Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 263,509 (-2520, +2520) | 390,937 (-2520, +2520) |
nssv14291151 | Remapped | Perfect | NW_003871056.3:g.( 260989_266029)_(38 8417_393457)dup | GRCh37.p13 | First Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 263,509 (-2520, +2520) | 390,937 (-2520, +2520) |
nssv14291152 | Remapped | Perfect | NW_003871056.3:g.( 260989_266029)_(38 8417_393457)dup | GRCh37.p13 | First Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 263,509 (-2520, +2520) | 390,937 (-2520, +2520) |
nssv14291153 | Remapped | Perfect | NW_003871056.3:g.( 260989_266029)_(38 8417_393457)dup | GRCh37.p13 | First Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 263,509 (-2520, +2520) | 390,937 (-2520, +2520) |
nssv14291154 | Remapped | Perfect | NW_003871056.3:g.( 260989_266029)_(38 8417_393457)dup | GRCh37.p13 | First Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 263,509 (-2520, +2520) | 390,937 (-2520, +2520) |
nssv14291155 | Remapped | Perfect | NW_003871056.3:g.( 260989_266029)_(38 8417_393457)dup | GRCh37.p13 | First Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 263,509 (-2520, +2520) | 390,937 (-2520, +2520) |