nsv5624480
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:2
- 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: 500 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5624480 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 135,828,651 | 135,828,651 | ||
| nsv5624480 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070887.1 | ChrX|NW_00 4070887.1 | 759,794 | 759,794 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17165574 | insertion | SAMN00007882 | Sequencing | Sequence alignment | 1,354 |
| nssv17165575 | insertion | HG03065 | Sequencing | Sequence alignment | 3,836 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17165574 | Submitted genomic | NC_000023.11:g.135 828651_135828652in s207 | GRCh38 (hg38) | NC_000023.11 | ChrX | 135,828,651 | 135,828,651 | ||
| nssv17165575 | Submitted genomic | NC_000023.11:g.135 828651_135828652in s93 | GRCh38 (hg38) | NC_000023.11 | ChrX | 135,828,651 | 135,828,651 | ||
| nssv17165574 | Remapped | Perfect | NW_004070887.1:g.7 59794_759795ins207 | GRCh37.p13 | First Pass | NW_004070887.1 | ChrX|NW_00 4070887.1 | 759,794 | 759,794 |
| nssv17165575 | Remapped | Perfect | NW_004070887.1:g.7 59794_759795ins93 | GRCh37.p13 | First Pass | NW_004070887.1 | ChrX|NW_00 4070887.1 | 759,794 | 759,794 |