nsv3418383
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- 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: 121 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 121 SVs from 20 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3418383 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 105,429,846 | 105,429,846 | ||
nsv3418383 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 108,192,127 | 108,192,127 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14774948 | alu insertion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
nssv14776584 | alu insertion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14774948 | Submitted genomic | NC_000009.12:g.105 429846_105429847in s290 | GRCh38 (hg38) | NC_000009.12 | Chr9 | 105,429,846 | 105,429,846 | ||
nssv14776584 | Submitted genomic | NC_000009.12:g.105 429846_105429847in s290 | GRCh38 (hg38) | NC_000009.12 | Chr9 | 105,429,846 | 105,429,846 | ||
nssv14774948 | Remapped | Perfect | NC_000009.11:g.108 192127_108192128in s290NC_000009.11:g .108192127_1081921 28ins290 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 108,192,127 | 108,192,127 |
nssv14776584 | Remapped | Perfect | NC_000009.11:g.108 192127_108192128in s290NC_000009.11:g .108192127_1081921 28ins290 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 108,192,127 | 108,192,127 |