nsv3922383
- 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:6,494,986
- Description:GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)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: 14809 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 14758 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 3998 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922383 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 61,970,847 | 68,465,832 |
| nsv3922383 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 61,956,521 | 68,514,983 |
| nsv3922383 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 61,931,561 | 68,597,673 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146193 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050774.5, VCV000057136.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146193 | Submitted genomic | NC_000003.12:g.(?_ 61970847)_(6846583 2_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 61,970,847 | 68,465,832 |
| nssv15146193 | Submitted genomic | NC_000003.11:g.(?_ 61956521)_(6851498 3_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 61,956,521 | 68,514,983 |
| nssv15146193 | Submitted genomic | NC_000003.10:g.(?_ 61931561)_(6859767 3_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 61,931,561 | 68,597,673 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146193 | GRCh37: NC_000003.11:g.(?_61956521)_(68514983_?)del, GRCh38: NC_000003.12:g.(?_61970847)_(68465832_?)del, NCBI36: NC_000003.10:g.(?_61931561)_(68597673_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000050774.5, VCV000057136.1 | 1 |