nsv3915039
- 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:1,656,459
- Description:GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1 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: 5553 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 5536 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 1349 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915039 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 37,447,222 | 39,103,680 |
| nsv3915039 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 37,843,259 | 39,499,685 |
| nsv3915039 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 36,173,205 | 37,829,631 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147541 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141783.4, VCV000153362.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147541 | Submitted genomic | NC_000022.11:g.(?_ 37447222)_(3910368 0_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 37,447,222 | 39,103,680 |
| nssv15147541 | Submitted genomic | NC_000022.10:g.(?_ 37843259)_(3949968 5_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 37,843,259 | 39,499,685 |
| nssv15147541 | Submitted genomic | NC_000022.9:g.(?_3 6173205)_(37829631 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 36,173,205 | 37,829,631 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147541 | GRCh37: NC_000022.10:g.(?_37843259)_(39499685_?)del, GRCh38: NC_000022.11:g.(?_37447222)_(39103680_?)del, NCBI36: NC_000022.9:g.(?_36173205)_(37829631_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000141783.4, VCV000153362.2 | 1 |