nsv3553614
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:63,417
- 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: 605 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 586 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 25 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3553614 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 149,671,972 (-1, +0) | 149,735,388 (-0, +1) | ||
nsv3553614 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 148,753,640 (-1, +0) | 148,817,048 (-0, +1) |
nsv3553614 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,196,370 (-1, +0) | 5,259,786 (-0, +1) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14452771 | inversion | SAMN00006579 | Sequencing | Sequence alignment | Homozygous | 13,953 |
nssv14457269 | inversion | SAMN00001696 | Sequencing | Sequence alignment | Heterozygous | 45,591 |
nssv14457803 | inversion | SAMN00006580 | Sequencing | Sequence alignment | Homozygous | 14,212 |
nssv14457856 | inversion | SAMN00001694 | Sequencing | Sequence alignment | Homozygous | 16,419 |
nssv14463028 | inversion | SAMN00006466 | Sequencing | Sequence alignment | Homozygous | 14,137 |
nssv14464424 | inversion | HG00514 | Sequencing | Sequence alignment | Heterozygous | 39,861 |
nssv14466188 | inversion | SAMN00006581 | Sequencing | Sequence alignment | Homozygous | 41,185 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14452771 | Submitted genomic | NC_000023.11:g.(14 9671971_149671972) _(149735388_149735 389)inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 149,671,972 (-1, +0) | 149,735,388 (-0, +1) | ||
nssv14457269 | Submitted genomic | NC_000023.11:g.(14 9671971_149671972) _(149735388_149735 389)inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 149,671,972 (-1, +0) | 149,735,388 (-0, +1) | ||
nssv14457803 | Submitted genomic | NC_000023.11:g.(14 9671971_149671972) _(149735388_149735 389)inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 149,671,972 (-1, +0) | 149,735,388 (-0, +1) | ||
nssv14457856 | Submitted genomic | NC_000023.11:g.(14 9671971_149671972) _(149735388_149735 389)inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 149,671,972 (-1, +0) | 149,735,388 (-0, +1) | ||
nssv14463028 | Submitted genomic | NC_000023.11:g.(14 9671971_149671972) _(149735388_149735 389)inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 149,671,972 (-1, +0) | 149,735,388 (-0, +1) | ||
nssv14464424 | Submitted genomic | NC_000023.11:g.(14 9671971_149671972) _(149735388_149735 389)inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 149,671,972 (-1, +0) | 149,735,388 (-0, +1) | ||
nssv14466188 | Submitted genomic | NC_000023.11:g.(14 9671971_149671972) _(149735388_149735 389)inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 149,671,972 (-1, +0) | 149,735,388 (-0, +1) | ||
nssv14452771 | Remapped | Perfect | NW_004070890.2:g.( 5196369_5196370)_( 5259786_5259787)in v | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,196,370 (-1, +0) | 5,259,786 (-0, +1) |
nssv14457269 | Remapped | Perfect | NW_004070890.2:g.( 5196369_5196370)_( 5259786_5259787)in v | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,196,370 (-1, +0) | 5,259,786 (-0, +1) |
nssv14457803 | Remapped | Perfect | NW_004070890.2:g.( 5196369_5196370)_( 5259786_5259787)in v | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,196,370 (-1, +0) | 5,259,786 (-0, +1) |
nssv14457856 | Remapped | Perfect | NW_004070890.2:g.( 5196369_5196370)_( 5259786_5259787)in v | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,196,370 (-1, +0) | 5,259,786 (-0, +1) |
nssv14463028 | Remapped | Perfect | NW_004070890.2:g.( 5196369_5196370)_( 5259786_5259787)in v | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,196,370 (-1, +0) | 5,259,786 (-0, +1) |
nssv14464424 | Remapped | Perfect | NW_004070890.2:g.( 5196369_5196370)_( 5259786_5259787)in v | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,196,370 (-1, +0) | 5,259,786 (-0, +1) |
nssv14466188 | Remapped | Perfect | NW_004070890.2:g.( 5196369_5196370)_( 5259786_5259787)in v | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,196,370 (-1, +0) | 5,259,786 (-0, +1) |
nssv14452771 | Remapped | Good | NC_000023.10:g.(14 8753639_148753640) _(148817048_148817 049)inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 148,753,640 (-1, +0) | 148,817,048 (-0, +1) |
nssv14457269 | Remapped | Good | NC_000023.10:g.(14 8753639_148753640) _(148817048_148817 049)inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 148,753,640 (-1, +0) | 148,817,048 (-0, +1) |
nssv14457803 | Remapped | Good | NC_000023.10:g.(14 8753639_148753640) _(148817048_148817 049)inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 148,753,640 (-1, +0) | 148,817,048 (-0, +1) |
nssv14457856 | Remapped | Good | NC_000023.10:g.(14 8753639_148753640) _(148817048_148817 049)inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 148,753,640 (-1, +0) | 148,817,048 (-0, +1) |
nssv14463028 | Remapped | Good | NC_000023.10:g.(14 8753639_148753640) _(148817048_148817 049)inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 148,753,640 (-1, +0) | 148,817,048 (-0, +1) |
nssv14464424 | Remapped | Good | NC_000023.10:g.(14 8753639_148753640) _(148817048_148817 049)inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 148,753,640 (-1, +0) | 148,817,048 (-0, +1) |
nssv14466188 | Remapped | Good | NC_000023.10:g.(14 8753639_148753640) _(148817048_148817 049)inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 148,753,640 (-1, +0) | 148,817,048 (-0, +1) |