nsv3243434
- 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:15,734
- 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: 581 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 579 SVs from 81 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3243434 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 49,713,799 (-1651, +1651) | 49,729,532 (-1651, +1651) | ||
nsv3243434 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 49,735,351 (-1651, +1651) | 49,751,084 (-1651, +1651) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14359034 | inversion | HG00512 | Sequencing | Sequence alignment | Heterozygous | 13,827 |
nssv14359035 | inversion | SAMN00006466 | Sequencing | Sequence alignment | Heterozygous | 14,137 |
nssv14359036 | inversion | HG00514 | Sequencing | Sequence alignment | Heterozygous | 39,861 |
nssv14359037 | inversion | SAMN00006579 | Sequencing | Sequence alignment | Heterozygous | 13,953 |
nssv14359038 | inversion | SAMN00006580 | Sequencing | Sequence alignment | Heterozygous | 14,212 |
nssv14359039 | inversion | SAMN00006581 | Sequencing | Sequence alignment | Heterozygous | 41,185 |
nssv14359040 | inversion | SAMN00001694 | Sequencing | Sequence alignment | Heterozygous | 16,419 |
nssv14359041 | inversion | SAMN00001695 | Sequencing | Sequence alignment | Heterozygous | 15,732 |
nssv14359042 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv14359034 | Submitted genomic | NC_000011.10:g.(49 712148_49715450)_( 49727881_49731183) inv15733 | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,713,799 (-1651, +1651) | 49,729,532 (-1651, +1651) | ||
nssv14359035 | Submitted genomic | NC_000011.10:g.(49 712148_49715450)_( 49727881_49731183) inv15733 | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,713,799 (-1651, +1651) | 49,729,532 (-1651, +1651) | ||
nssv14359036 | Submitted genomic | NC_000011.10:g.(49 712148_49715450)_( 49727881_49731183) inv15733 | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,713,799 (-1651, +1651) | 49,729,532 (-1651, +1651) | ||
nssv14359037 | Submitted genomic | NC_000011.10:g.(49 712148_49715450)_( 49727881_49731183) inv15733 | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,713,799 (-1651, +1651) | 49,729,532 (-1651, +1651) | ||
nssv14359038 | Submitted genomic | NC_000011.10:g.(49 712148_49715450)_( 49727881_49731183) inv15733 | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,713,799 (-1651, +1651) | 49,729,532 (-1651, +1651) | ||
nssv14359039 | Submitted genomic | NC_000011.10:g.(49 712148_49715450)_( 49727881_49731183) inv15733 | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,713,799 (-1651, +1651) | 49,729,532 (-1651, +1651) | ||
nssv14359040 | Submitted genomic | NC_000011.10:g.(49 712148_49715450)_( 49727881_49731183) inv15733 | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,713,799 (-1651, +1651) | 49,729,532 (-1651, +1651) | ||
nssv14359041 | Submitted genomic | NC_000011.10:g.(49 712148_49715450)_( 49727881_49731183) inv15733 | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,713,799 (-1651, +1651) | 49,729,532 (-1651, +1651) | ||
nssv14359042 | Submitted genomic | NC_000011.10:g.(49 712148_49715450)_( 49727881_49731183) inv15733 | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,713,799 (-1651, +1651) | 49,729,532 (-1651, +1651) | ||
nssv14359034 | Remapped | Perfect | NC_000011.9:g.(497 33700_49737002)_(4 9749433_49752735)i nv15733 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,735,351 (-1651, +1651) | 49,751,084 (-1651, +1651) |
nssv14359035 | Remapped | Perfect | NC_000011.9:g.(497 33700_49737002)_(4 9749433_49752735)i nv15733 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,735,351 (-1651, +1651) | 49,751,084 (-1651, +1651) |
nssv14359036 | Remapped | Perfect | NC_000011.9:g.(497 33700_49737002)_(4 9749433_49752735)i nv15733 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,735,351 (-1651, +1651) | 49,751,084 (-1651, +1651) |
nssv14359037 | Remapped | Perfect | NC_000011.9:g.(497 33700_49737002)_(4 9749433_49752735)i nv15733 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,735,351 (-1651, +1651) | 49,751,084 (-1651, +1651) |
nssv14359038 | Remapped | Perfect | NC_000011.9:g.(497 33700_49737002)_(4 9749433_49752735)i nv15733 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,735,351 (-1651, +1651) | 49,751,084 (-1651, +1651) |
nssv14359039 | Remapped | Perfect | NC_000011.9:g.(497 33700_49737002)_(4 9749433_49752735)i nv15733 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,735,351 (-1651, +1651) | 49,751,084 (-1651, +1651) |
nssv14359040 | Remapped | Perfect | NC_000011.9:g.(497 33700_49737002)_(4 9749433_49752735)i nv15733 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,735,351 (-1651, +1651) | 49,751,084 (-1651, +1651) |
nssv14359041 | Remapped | Perfect | NC_000011.9:g.(497 33700_49737002)_(4 9749433_49752735)i nv15733 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,735,351 (-1651, +1651) | 49,751,084 (-1651, +1651) |
nssv14359042 | Remapped | Perfect | NC_000011.9:g.(497 33700_49737002)_(4 9749433_49752735)i nv15733 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,735,351 (-1651, +1651) | 49,751,084 (-1651, +1651) |