nsv3415765
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- 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: 88 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 88 SVs from 25 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3415765 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 37,293,059 | 37,293,059 | ||
nsv3415765 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 37,332,663 | 37,332,663 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14732235 | sva insertion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
nssv14736191 | sva insertion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
nssv14741254 | sva insertion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14732235 | Submitted genomic | NC_000007.14:g.372 93059_37293060ins1 29 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 37,293,059 | 37,293,059 | ||
nssv14736191 | Submitted genomic | NC_000007.14:g.372 93059_37293060ins1 29 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 37,293,059 | 37,293,059 | ||
nssv14741254 | Submitted genomic | NC_000007.14:g.372 93059_37293060ins1 29 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 37,293,059 | 37,293,059 | ||
nssv14732235 | Remapped | Perfect | NC_000007.13:g.373 32663_37332664ins1 29NC_000007.13:g.3 7332663_37332664in s129 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 37,332,663 | 37,332,663 |
nssv14736191 | Remapped | Perfect | NC_000007.13:g.373 32663_37332664ins1 29NC_000007.13:g.3 7332663_37332664in s129 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 37,332,663 | 37,332,663 |
nssv14741254 | Remapped | Perfect | NC_000007.13:g.373 32663_37332664ins1 29NC_000007.13:g.3 7332663_37332664in s129 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 37,332,663 | 37,332,663 |