nsv4996581
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:272,390
- Publication(s):Abel et al. 2020
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: 1005 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1005 SVs from 81 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4996581 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 23,646,614 | 23,919,003 | ||
| nsv4996581 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 24,220,753 | 24,493,142 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16541117 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16541117 | Submitted genomic | NC_000013.11:g.236 46614_23919003del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 23,646,614 | 23,919,003 | ||
| nssv16541117 | Remapped | Perfect | NC_000013.10:g.242 20753_24493142del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 24,220,753 | 24,493,142 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16541117 | <0.001 | 2 | 29246 |