nsv3906717
- 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:7,415,200
- Description:GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)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: 17537 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 17536 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 4631 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3906717 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 159,479,887 | 166,895,086 |
| nsv3906717 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 159,449,677 | 166,864,323 |
| nsv3906717 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 157,716,301 | 165,130,947 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132112 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051172.5, VCV000057465.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132112 | Submitted genomic | NC_000001.11:g.(?_ 159479887)_(166895 086_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 159,479,887 | 166,895,086 |
| nssv15132112 | Submitted genomic | NC_000001.10:g.(?_ 159449677)_(166864 323_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 159,449,677 | 166,864,323 |
| nssv15132112 | Submitted genomic | NC_000001.9:g.(?_1 57716301)_(1651309 47_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 157,716,301 | 165,130,947 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132112 | GRCh37: NC_000001.10:g.(?_159449677)_(166864323_?)del, GRCh38: NC_000001.11:g.(?_159479887)_(166895086_?)del, NCBI36: NC_000001.9:g.(?_157716301)_(165130947_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051172.5, VCV000057465.1 | 1 |