nsv3905364
- 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:6,245,232
- Description:GRCh38/hg38 1q43-44(chr1:241459440-247704671)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: 21527 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 21528 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 5478 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3905364 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 241,459,440 | 247,704,671 |
| nsv3905364 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 241,622,740 | 247,867,973 |
| nsv3905364 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 239,689,363 | 245,934,596 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147199 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054026.7, VCV000060152.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147199 | Submitted genomic | NC_000001.11:g.(?_ 241459440)_(247704 671_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 241,459,440 | 247,704,671 |
| nssv15147199 | Submitted genomic | NC_000001.10:g.(?_ 241622740)_(247867 973_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 241,622,740 | 247,867,973 |
| nssv15147199 | Submitted genomic | NC_000001.9:g.(?_2 39689363)_(2459345 96_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 239,689,363 | 245,934,596 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147199 | GRCh37: NC_000001.10:g.(?_241622740)_(247867973_?)del, GRCh38: NC_000001.11:g.(?_241459440)_(247704671_?)del, NCBI36: NC_000001.9:g.(?_239689363)_(245934596_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000054026.7, VCV000060152.2 | 1 |