nsv3924136
- 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:10,533,793
- Description:GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)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: 39998 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 40168 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 9263 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924136 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 40,202,014 | 50,735,806 |
| nsv3924136 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 40,598,018 | 51,174,234 |
| nsv3924136 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 38,927,964 | 49,521,100 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148005 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134513.7, VCV000145111.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148005 | Submitted genomic | NC_000022.11:g.(?_ 40202014)_(5073580 6_?)dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 40,202,014 | 50,735,806 |
| nssv15148005 | Submitted genomic | NC_000022.10:g.(?_ 40598018)_(5117423 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 40,598,018 | 51,174,234 |
| nssv15148005 | Submitted genomic | NC_000022.9:g.(?_3 8927964)_(49521100 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 38,927,964 | 49,521,100 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148005 | GRCh37: NC_000022.10:g.(?_40598018)_(51174234_?)dup, GRCh38: NC_000022.11:g.(?_40202014)_(50735806_?)dup, NCBI36: NC_000022.9:g.(?_38927964)_(49521100_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134513.7, VCV000145111.3 | 3 |