nsv3412835
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element 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: 126 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 134 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3412835 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 64,926,445 | 64,926,445 | ||
nsv3412835 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 64,386,823 | 64,386,823 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14746324 | sva insertion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14746324 | Submitted genomic | NC_000007.14:g.649 26445_64926446ins2 717 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 64,926,445 | 64,926,445 | ||
nssv14746324 | Remapped | Perfect | NC_000007.13:g.643 86823_64386824ins2 717NC_000007.13:g. 64386823_64386824i ns2717 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 64,386,823 | 64,386,823 |