nsv5643470
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Ebert et al. 2021
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: 203 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 203 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 7 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5643470 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 133,460,474 | 133,460,474 | ||
nsv5643470 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000009.11 | Chr9 | 136,325,596 | 136,325,596 |
nsv5643470 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315925.1 | Chr9|NW_00 3315925.1 | 286,568 | 286,568 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17159981 | insertion | SAMN00007882 | Sequencing | Sequence alignment | 1,354 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17159981 | Submitted genomic | NC_000009.12:g.133 460474_133460475in s105 | GRCh38 (hg38) | NC_000009.12 | Chr9 | 133,460,474 | 133,460,474 | ||
nssv17159981 | Remapped | Perfect | NW_003315925.1:g.2 86568_286569ins105 | GRCh37.p13 | First Pass | NW_003315925.1 | Chr9|NW_00 3315925.1 | 286,568 | 286,568 |
nssv17159981 | Remapped | Perfect | NC_000009.11:g.136 325596_136325597in s105 | GRCh37.p13 | Second Pass | NC_000009.11 | Chr9 | 136,325,596 | 136,325,596 |