nsv3547243
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:24,835
- 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: 112 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 120 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3547243 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 50,751,431 (-1, +0) | 50,776,265 (-0, +1) | ||
| nsv3547243 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 52,511,191 (-1, +0) | 52,536,025 (-0, +1) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14452631 | inversion | SAMN00006580 | Sequencing | Sequence alignment | Heterozygous | 14,212 |
| nssv14464488 | inversion | HG00512 | Sequencing | Sequence alignment | Heterozygous | 13,827 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14452631 | Submitted genomic | NC_000010.11:g.(50 751430_50751431)_( 50776265_50776266) inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 50,751,431 (-1, +0) | 50,776,265 (-0, +1) | ||
| nssv14464488 | Submitted genomic | NC_000010.11:g.(50 751430_50751431)_( 50776265_50776266) inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 50,751,431 (-1, +0) | 50,776,265 (-0, +1) | ||
| nssv14452631 | Remapped | Perfect | NC_000010.10:g.(52 511190_52511191)_( 52536025_52536026) inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 52,511,191 (-1, +0) | 52,536,025 (-0, +1) |
| nssv14464488 | Remapped | Perfect | NC_000010.10:g.(52 511190_52511191)_( 52536025_52536026) inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 52,511,191 (-1, +0) | 52,536,025 (-0, +1) |