nsv3329418
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,991
- Publication(s):Audano 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: 181 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 181 SVs from 48 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3329418 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 55,007,443 | 55,013,433 | ||
nsv3329418 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 56,767,203 | 56,773,193 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14511421 | inversion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14511421 | Submitted genomic | NC_000010.11:g.550 07443_55013433inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 55,007,443 | 55,013,433 | ||
nssv14511421 | Remapped | Perfect | NC_000010.10:g.567 67203_56773193invN C_000010.10:g.5676 7203_56773193inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,767,203 | 56,773,193 |