nsv3914342
- 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:476,342
- Description:GRCh38/hg38 3q25.32(chr3:157470300-157946641)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: 929 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 929 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 212 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914342 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 157,470,300 | 157,946,641 |
| nsv3914342 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 157,188,089 | 157,664,430 |
| nsv3914342 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 158,670,783 | 159,147,124 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119577 | copy number loss | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000135154.3, VCV000145828.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119577 | Submitted genomic | NC_000003.12:g.(?_ 157470300)_(157946 641_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 157,470,300 | 157,946,641 |
| nssv15119577 | Submitted genomic | NC_000003.11:g.(?_ 157188089)_(157664 430_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 157,188,089 | 157,664,430 |
| nssv15119577 | Submitted genomic | NC_000003.10:g.(?_ 158670783)_(159147 124_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 158,670,783 | 159,147,124 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119577 | GRCh37: NC_000003.11:g.(?_157188089)_(157664430_?)del, GRCh38: NC_000003.12:g.(?_157470300)_(157946641_?)del, NCBI36: NC_000003.10:g.(?_158670783)_(159147124_?)del | copy number loss | not provided | See cases | Likely benign | ClinVar | RCV000135154.3, VCV000145828.1 | 1 |