nsv3378895
- 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:8,414
- 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: 133 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 133 SVs from 35 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3378895 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 17,950,432 | 17,958,845 | ||
nsv3378895 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 17,931,076 | 17,939,489 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14637052 | inversion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14637052 | Submitted genomic | NC_000020.11:g.179 50432_17958845inv | GRCh38 (hg38) | NC_000020.11 | Chr20 | 17,950,432 | 17,958,845 | ||
nssv14637052 | Remapped | Perfect | NC_000020.10:g.179 31076_17939489invN C_000020.10:g.1793 1076_17939489inv | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 17,931,076 | 17,939,489 |