nsv3553272
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:60,724
- 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: 460 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 460 SVs from 60 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3553272 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 87,238,107 (-1, +0) | 87,298,830 (-0, +1) | ||
nsv3553272 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 88,997,864 (-1, +0) | 89,058,587 (-0, +1) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14456339 | inversion | SAMN00001694 | Sequencing | Sequence alignment | Heterozygous | 16,419 |
nssv14458333 | inversion | SAMN00001696 | Sequencing | Sequence alignment | Heterozygous | 45,591 |
nssv14459306 | inversion | SAMN00006466 | Sequencing | Sequence alignment | Heterozygous | 14,137 |
nssv14464918 | inversion | HG00514 | Sequencing | Sequence alignment | Heterozygous | 39,861 |
nssv14465996 | inversion | SAMN00001695 | Sequencing | Sequence alignment | Heterozygous | 15,732 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14456339 | Submitted genomic | NC_000010.11:g.(87 238106_87238107)_( 87298830_87298831) inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 87,238,107 (-1, +0) | 87,298,830 (-0, +1) | ||
nssv14458333 | Submitted genomic | NC_000010.11:g.(87 238106_87238107)_( 87298830_87298831) inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 87,238,107 (-1, +0) | 87,298,830 (-0, +1) | ||
nssv14459306 | Submitted genomic | NC_000010.11:g.(87 238106_87238107)_( 87298830_87298831) inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 87,238,107 (-1, +0) | 87,298,830 (-0, +1) | ||
nssv14464918 | Submitted genomic | NC_000010.11:g.(87 238106_87238107)_( 87298830_87298831) inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 87,238,107 (-1, +0) | 87,298,830 (-0, +1) | ||
nssv14465996 | Submitted genomic | NC_000010.11:g.(87 238106_87238107)_( 87298830_87298831) inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 87,238,107 (-1, +0) | 87,298,830 (-0, +1) | ||
nssv14456339 | Remapped | Perfect | NC_000010.10:g.(88 997863_88997864)_( 89058587_89058588) inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 88,997,864 (-1, +0) | 89,058,587 (-0, +1) |
nssv14458333 | Remapped | Perfect | NC_000010.10:g.(88 997863_88997864)_( 89058587_89058588) inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 88,997,864 (-1, +0) | 89,058,587 (-0, +1) |
nssv14459306 | Remapped | Perfect | NC_000010.10:g.(88 997863_88997864)_( 89058587_89058588) inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 88,997,864 (-1, +0) | 89,058,587 (-0, +1) |
nssv14464918 | Remapped | Perfect | NC_000010.10:g.(88 997863_88997864)_( 89058587_89058588) inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 88,997,864 (-1, +0) | 89,058,587 (-0, +1) |
nssv14465996 | Remapped | Perfect | NC_000010.10:g.(88 997863_88997864)_( 89058587_89058588) inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 88,997,864 (-1, +0) | 89,058,587 (-0, +1) |