nsv3915130
- 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:7,012,642
- Description:GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)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: 19538 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 19557 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 4799 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915130 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 26,979,579 | 33,992,220 |
| nsv3915130 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 27,375,542 | 34,388,209 |
| nsv3915130 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 25,705,542 | 32,718,209 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132509 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050553.5, VCV000057002.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132509 | Submitted genomic | NC_000022.11:g.(?_ 26979579)_(3399222 0_?)dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 26,979,579 | 33,992,220 |
| nssv15132509 | Submitted genomic | NC_000022.10:g.(?_ 27375542)_(3438820 9_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 27,375,542 | 34,388,209 |
| nssv15132509 | Submitted genomic | NC_000022.9:g.(?_2 5705542)_(32718209 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 25,705,542 | 32,718,209 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132509 | GRCh37: NC_000022.10:g.(?_27375542)_(34388209_?)dup, GRCh38: NC_000022.11:g.(?_26979579)_(33992220_?)dup, NCBI36: NC_000022.9:g.(?_25705542)_(32718209_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000050553.5, VCV000057002.1 | 3 |