nsv3924082
- 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:7,866,833
- Description:GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)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: 17935 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 17930 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 4948 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 |
|---|---|---|---|---|---|---|---|
| nsv3924082 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 118,673,898 | 126,540,730 |
| nsv3924082 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 118,392,745 | 126,259,573 |
| nsv3924082 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 119,875,435 | 127,742,263 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139642 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143695.4, VCV000155628.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139642 | Submitted genomic | NC_000003.12:g.(?_ 118673898)_(126540 730_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 118,673,898 | 126,540,730 |
| nssv15139642 | Submitted genomic | NC_000003.11:g.(?_ 118392745)_(126259 573_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 118,392,745 | 126,259,573 |
| nssv15139642 | Submitted genomic | NC_000003.10:g.(?_ 119875435)_(127742 263_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 119,875,435 | 127,742,263 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139642 | GRCh37: NC_000003.11:g.(?_118392745)_(126259573_?)del, GRCh38: NC_000003.12:g.(?_118673898)_(126540730_?)del, NCBI36: NC_000003.10:g.(?_119875435)_(127742263_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143695.4, VCV000155628.2 | 1 |