nsv4907948
- 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:3,868
- 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: 634 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 164 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4907948 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 89,671,963 | 89,675,830 | ||
| nsv4907948 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000004.11 | Chr4 | 103,860,695 | 103,864,591 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16431867 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16431867 | Submitted genomic | NC_000002.12:g.896 71963_89675830del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 89,671,963 | 89,675,830 | ||
| nssv16431867 | Remapped | Good | NC_000004.11:g.103 860695_103864591de l | GRCh37.p13 | Second Pass | NC_000004.11 | Chr4 | 103,860,695 | 103,864,591 |
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) |
|---|---|---|---|
| nssv16431867 | 0.097 | 2821 | 29246 |