nsv4676117
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:831,137
- Description:GRCh37/hg19 21q21.3-22.11(chr21:31171624-32002762)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2265 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 2269 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676117 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 29,799,307 | 30,630,443 |
| nsv4676117 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 31,171,624 | 32,002,762 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207442 | copy number gain | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001007123.1, VCV000816157.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207442 | Remapped | Perfect | NC_000021.9:g.(?_2 9799307)_(30630443 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 29,799,307 | 30,630,443 |
| nssv16207442 | Submitted genomic | NC_000021.8:g.(?_3 1171624)_(32002762 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 31,171,624 | 32,002,762 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207442 | GRCh37: NC_000021.8:g.(?_31171624)_(32002762_?)dup | copy number gain | germline | not provided | Likely benign | ClinVar | RCV001007123.1, VCV000816157.1 | 3 |