nsv3923324
- 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:638,061
- Description:GRCh38/hg38 22q12.2(chr22:30312256-30950316)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: 1779 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1779 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 411 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923324 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 30,312,256 | 30,950,316 |
| nsv3923324 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 30,708,245 | 31,346,302 |
| nsv3923324 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 29,038,245 | 29,676,302 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135564 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000138556.4, VCV000149559.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135564 | Submitted genomic | NC_000022.11:g.(?_ 30312256)_(3095031 6_?)dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 30,312,256 | 30,950,316 |
| nssv15135564 | Submitted genomic | NC_000022.10:g.(?_ 30708245)_(3134630 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 30,708,245 | 31,346,302 |
| nssv15135564 | Submitted genomic | NC_000022.9:g.(?_2 9038245)_(29676302 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 29,038,245 | 29,676,302 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135564 | GRCh37: NC_000022.10:g.(?_30708245)_(31346302_?)dup, GRCh38: NC_000022.11:g.(?_30312256)_(30950316_?)dup, NCBI36: NC_000022.9:g.(?_29038245)_(29676302_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000138556.4, VCV000149559.2 | 3 |