nsv3921383
- 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:2,462,627
- Description:GRCh38/hg38 7p14.3(chr7:30938370-33400996)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: 6839 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 6839 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 2085 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921383 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 30,938,370 | 33,400,996 |
| nsv3921383 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 30,977,985 | 33,440,608 |
| nsv3921383 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 30,944,510 | 33,407,133 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138559 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000141441.5, VCV000152941.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138559 | Submitted genomic | NC_000007.14:g.(?_ 30938370)_(3340099 6_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 30,938,370 | 33,400,996 |
| nssv15138559 | Submitted genomic | NC_000007.13:g.(?_ 30977985)_(3344060 8_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 30,977,985 | 33,440,608 |
| nssv15138559 | Submitted genomic | NC_000007.12:g.(?_ 30944510)_(3340713 3_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 30,944,510 | 33,407,133 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138559 | GRCh37: NC_000007.13:g.(?_30977985)_(33440608_?)del, GRCh38: NC_000007.14:g.(?_30938370)_(33400996_?)del, NCBI36: NC_000007.12:g.(?_30944510)_(33407133_?)del | copy number loss | not provided | See cases | Likely pathogenic | ClinVar | RCV000141441.5, VCV000152941.2 | 1 |