nsv3418753
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 184 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 184 SVs from 44 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3418753 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 12,485,760 | 12,485,760 | ||
nsv3418753 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 12,525,386 | 12,525,386 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14751067 | insertion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14751067 | Submitted genomic | NC_000007.14:g.124 85760_12485761ins5 79 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 12,485,760 | 12,485,760 | ||
nssv14751067 | Remapped | Perfect | NC_000007.13:g.125 25386_12525387ins5 79NC_000007.13:g.1 2525386_12525387in s579 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 12,525,386 | 12,525,386 |