nsv3912605
- 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:3,204,611
- Description:GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)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: 19171 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 19212 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 4029 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912605 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 54,165 | 3,258,775 |
| nsv3912605 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 54,165 | 3,298,407 |
| nsv3912605 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 149,248 | 3,264,933 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137962 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142995.6, VCV000154928.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137962 | Submitted genomic | NC_000007.14:g.(?_ 54165)_(3258775_?) del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 54,165 | 3,258,775 |
| nssv15137962 | Submitted genomic | NC_000007.13:g.(?_ 54165)_(3298407_?) del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 54,165 | 3,298,407 |
| nssv15137962 | Submitted genomic | NC_000007.12:g.(?_ 149248)_(3264933_? )del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 149,248 | 3,264,933 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137962 | GRCh37: NC_000007.13:g.(?_54165)_(3298407_?)del, GRCh38: NC_000007.14:g.(?_54165)_(3258775_?)del, NCBI36: NC_000007.12:g.(?_149248)_(3264933_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142995.6, VCV000154928.2 | 1 |