nsv3921636
- 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:10,643,320
- Description:GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)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: 24216 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 24231 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 6244 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 |
|---|---|---|---|---|---|---|---|
| nsv3921636 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 135,227,451 | 145,870,770 |
| nsv3921636 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 134,946,293 | 145,588,557 |
| nsv3921636 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 136,428,983 | 147,071,247 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119840 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051572.5, VCV000057832.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119840 | Submitted genomic | NC_000003.12:g.(?_ 135227451)_(145870 770_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 135,227,451 | 145,870,770 |
| nssv15119840 | Submitted genomic | NC_000003.11:g.(?_ 134946293)_(145588 557_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 134,946,293 | 145,588,557 |
| nssv15119840 | Submitted genomic | NC_000003.10:g.(?_ 136428983)_(147071 247_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 136,428,983 | 147,071,247 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119840 | GRCh37: NC_000003.11:g.(?_134946293)_(145588557_?)del, GRCh38: NC_000003.12:g.(?_135227451)_(145870770_?)del, NCBI36: NC_000003.10:g.(?_136428983)_(147071247_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051572.5, VCV000057832.1 | 1 |