nsv5039053
- 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:126,495
- 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: 1192 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1192 SVs from 84 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5039053 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 45,299,275 | 45,425,769 | ||
| nsv5039053 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 46,719,190 | 46,845,684 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16593515 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16593515 | Submitted genomic | NC_000021.9:g.4529 9275_45425769dup | GRCh38 (hg38) | NC_000021.9 | Chr21 | 45,299,275 | 45,425,769 | ||
| nssv16593515 | Remapped | Perfect | NC_000021.8:g.4671 9190_46845684dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 46,719,190 | 46,845,684 |
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) |
|---|---|---|---|
| nssv16593515 | <0.001 | 1 | 29246 |