nsv3416711
- 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: 99 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 99 SVs from 23 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3416711 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 125,458,889 | 125,458,889 | ||
nsv3416711 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 128,221,168 | 128,221,168 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14772748 | sva insertion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
nssv14773070 | sva insertion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
nssv14776506 | sva insertion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14772748 | Submitted genomic | NC_000009.12:g.125 458889_125458890in s159 | GRCh38 (hg38) | NC_000009.12 | Chr9 | 125,458,889 | 125,458,889 | ||
nssv14773070 | Submitted genomic | NC_000009.12:g.125 458889_125458890in s159 | GRCh38 (hg38) | NC_000009.12 | Chr9 | 125,458,889 | 125,458,889 | ||
nssv14776506 | Submitted genomic | NC_000009.12:g.125 458889_125458890in s159 | GRCh38 (hg38) | NC_000009.12 | Chr9 | 125,458,889 | 125,458,889 | ||
nssv14772748 | Remapped | Perfect | NC_000009.11:g.128 221168_128221169in s159NC_000009.11:g .128221168_1282211 69ins159 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 128,221,168 | 128,221,168 |
nssv14773070 | Remapped | Perfect | NC_000009.11:g.128 221168_128221169in s159NC_000009.11:g .128221168_1282211 69ins159 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 128,221,168 | 128,221,168 |
nssv14776506 | Remapped | Perfect | NC_000009.11:g.128 221168_128221169in s159NC_000009.11:g .128221168_1282211 69ins159 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 128,221,168 | 128,221,168 |