nsv3544761
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:42,329
- 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: 606 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 611 SVs from 71 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3544761 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 247,128,053 (-5, +0) | 247,170,381 (-15, +15) | ||
nsv3544761 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 247,291,355 (-5, +0) | 247,333,683 (-15, +15) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14321582 | inversion | HG00512 | Sequencing | Sequence alignment | Heterozygous | 13,827 |
nssv14321583 | inversion | SAMN00006466 | Sequencing | Sequence alignment | Heterozygous | 14,137 |
nssv14321584 | inversion | HG00514 | Sequencing | Sequence alignment | Heterozygous | 39,861 |
nssv14321585 | inversion | SAMN00006579 | Sequencing | Sequence alignment | Heterozygous | 13,953 |
nssv14321586 | inversion | SAMN00006580 | Sequencing | Sequence alignment | Heterozygous | 14,212 |
nssv14321587 | inversion | SAMN00006581 | Sequencing | Sequence alignment | Heterozygous | 41,185 |
nssv14321588 | inversion | SAMN00001694 | Sequencing | Sequence alignment | Heterozygous | 16,419 |
nssv14321589 | inversion | SAMN00001695 | Sequencing | Sequence alignment | Heterozygous | 15,732 |
nssv14321590 | inversion | SAMN00001696 | Sequencing | Sequence alignment | Heterozygous | 45,591 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14321582 | Submitted genomic | NC_000001.11:g.(24 7128048_247128053) _(247170366_247170 396)inv42328 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,128,053 (-5, +0) | 247,170,381 (-15, +15) | ||
nssv14321583 | Submitted genomic | NC_000001.11:g.(24 7128048_247128053) _(247170366_247170 396)inv42328 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,128,053 (-5, +0) | 247,170,381 (-15, +15) | ||
nssv14321584 | Submitted genomic | NC_000001.11:g.(24 7128048_247128053) _(247170366_247170 396)inv42328 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,128,053 (-5, +0) | 247,170,381 (-15, +15) | ||
nssv14321585 | Submitted genomic | NC_000001.11:g.(24 7128048_247128053) _(247170366_247170 396)inv42328 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,128,053 (-5, +0) | 247,170,381 (-15, +15) | ||
nssv14321586 | Submitted genomic | NC_000001.11:g.(24 7128048_247128053) _(247170366_247170 396)inv42328 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,128,053 (-5, +0) | 247,170,381 (-15, +15) | ||
nssv14321587 | Submitted genomic | NC_000001.11:g.(24 7128048_247128053) _(247170366_247170 396)inv42328 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,128,053 (-5, +0) | 247,170,381 (-15, +15) | ||
nssv14321588 | Submitted genomic | NC_000001.11:g.(24 7128048_247128053) _(247170366_247170 396)inv42328 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,128,053 (-5, +0) | 247,170,381 (-15, +15) | ||
nssv14321589 | Submitted genomic | NC_000001.11:g.(24 7128048_247128053) _(247170366_247170 396)inv42328 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,128,053 (-5, +0) | 247,170,381 (-15, +15) | ||
nssv14321590 | Submitted genomic | NC_000001.11:g.(24 7128048_247128053) _(247170366_247170 396)inv42328 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,128,053 (-5, +0) | 247,170,381 (-15, +15) | ||
nssv14321582 | Remapped | Perfect | NC_000001.10:g.(24 7291350_247291355) _(247333668_247333 698)inv42328 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 247,291,355 (-5, +0) | 247,333,683 (-15, +15) |
nssv14321583 | Remapped | Perfect | NC_000001.10:g.(24 7291350_247291355) _(247333668_247333 698)inv42328 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 247,291,355 (-5, +0) | 247,333,683 (-15, +15) |
nssv14321584 | Remapped | Perfect | NC_000001.10:g.(24 7291350_247291355) _(247333668_247333 698)inv42328 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 247,291,355 (-5, +0) | 247,333,683 (-15, +15) |
nssv14321585 | Remapped | Perfect | NC_000001.10:g.(24 7291350_247291355) _(247333668_247333 698)inv42328 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 247,291,355 (-5, +0) | 247,333,683 (-15, +15) |
nssv14321586 | Remapped | Perfect | NC_000001.10:g.(24 7291350_247291355) _(247333668_247333 698)inv42328 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 247,291,355 (-5, +0) | 247,333,683 (-15, +15) |
nssv14321587 | Remapped | Perfect | NC_000001.10:g.(24 7291350_247291355) _(247333668_247333 698)inv42328 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 247,291,355 (-5, +0) | 247,333,683 (-15, +15) |
nssv14321588 | Remapped | Perfect | NC_000001.10:g.(24 7291350_247291355) _(247333668_247333 698)inv42328 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 247,291,355 (-5, +0) | 247,333,683 (-15, +15) |
nssv14321589 | Remapped | Perfect | NC_000001.10:g.(24 7291350_247291355) _(247333668_247333 698)inv42328 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 247,291,355 (-5, +0) | 247,333,683 (-15, +15) |
nssv14321590 | Remapped | Perfect | NC_000001.10:g.(24 7291350_247291355) _(247333668_247333 698)inv42328 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 247,291,355 (-5, +0) | 247,333,683 (-15, +15) |