nsv3915383
- 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:1,682,850
- Description:GRCh38/hg38 7q22.1(chr7:99219420-100902269)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: 4728 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 4728 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 994 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 |
|---|---|---|---|---|---|---|---|
| nsv3915383 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 99,219,420 | 100,902,269 |
| nsv3915383 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 98,817,043 | 100,499,889 |
| nsv3915383 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 98,654,979 | 100,337,825 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147898 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054154.4, VCV000060280.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147898 | Submitted genomic | NC_000007.14:g.(?_ 99219420)_(1009022 69_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 99,219,420 | 100,902,269 |
| nssv15147898 | Submitted genomic | NC_000007.13:g.(?_ 98817043)_(1004998 89_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 98,817,043 | 100,499,889 |
| nssv15147898 | Submitted genomic | NC_000007.12:g.(?_ 98654979)_(1003378 25_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 98,654,979 | 100,337,825 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147898 | GRCh37: NC_000007.13:g.(?_98817043)_(100499889_?)del, GRCh38: NC_000007.14:g.(?_99219420)_(100902269_?)del, NCBI36: NC_000007.12:g.(?_98654979)_(100337825_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000054154.4, VCV000060280.1 | 1 |