nsv3912378
- 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:10,607,702
- Description:GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)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: 29027 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 29014 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 7209 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912378 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 101,807,149 | 112,414,850 |
| nsv3912378 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 101,450,429 | 112,054,905 |
| nsv3912378 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 101,237,149 | 111,842,141 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132621 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050924.7, VCV000057255.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132621 | Submitted genomic | NC_000007.14:g.(?_ 101807149)_(112414 850_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 101,807,149 | 112,414,850 |
| nssv15132621 | Submitted genomic | NC_000007.13:g.(?_ 101450429)_(112054 905_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 101,450,429 | 112,054,905 |
| nssv15132621 | Submitted genomic | NC_000007.12:g.(?_ 101237149)_(111842 141_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 101,237,149 | 111,842,141 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132621 | GRCh37: NC_000007.13:g.(?_101450429)_(112054905_?)del, GRCh38: NC_000007.14:g.(?_101807149)_(112414850_?)del, NCBI36: NC_000007.12:g.(?_101237149)_(111842141_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000050924.7, VCV000057255.1 | 1 |