nsv3922708
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:12,968,139
- Description:GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 39513 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 40429 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 11520 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922708 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 23,279,231 | 36,247,369 |
| nsv3922708 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 23,621,418 | 36,643,415 |
| nsv3922708 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 21,951,418 | 34,973,361 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134705 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138172.5, VCV000149114.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134705 | Submitted genomic | NC_000022.11:g.(?_ 23279231)_(3624736 9_?)dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 23,279,231 | 36,247,369 |
| nssv15134705 | Submitted genomic | NC_000022.10:g.(?_ 23621418)_(3664341 5_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 23,621,418 | 36,643,415 |
| nssv15134705 | Submitted genomic | NC_000022.9:g.(?_2 1951418)_(34973361 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 21,951,418 | 34,973,361 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134705 | GRCh37: NC_000022.10:g.(?_23621418)_(36643415_?)dup, GRCh38: NC_000022.11:g.(?_23279231)_(36247369_?)dup, NCBI36: NC_000022.9:g.(?_21951418)_(34973361_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000138172.5, VCV000149114.2 | 3 |