nsv3891069
- 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:379,837
- Description:GRCh38/hg38 1q21.2(chr1:150034379-150414215)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: 1171 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 979 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 301 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3891069 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 150,034,379 | 150,414,215 |
| nsv3891069 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 150,006,344 | 150,311,095 |
| nsv3891069 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 148,272,968 | 148,653,315 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132367 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000051175.6, VCV000057468.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132367 | Submitted genomic | NC_000001.11:g.(?_ 150034379)_(150414 215_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 150,034,379 | 150,414,215 |
| nssv15132367 | Submitted genomic | NC_000001.10:g.(?_ 150006344)_(150311 095_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 150,006,344 | 150,311,095 |
| nssv15132367 | Submitted genomic | NC_000001.9:g.(?_1 48272968)_(1486533 15_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 148,272,968 | 148,653,315 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132367 | GRCh37: NC_000001.10:g.(?_150006344)_(150311095_?)del, GRCh38: NC_000001.11:g.(?_150034379)_(150414215_?)del, NCBI36: NC_000001.9:g.(?_148272968)_(148653315_?)del | copy number loss | maternal | See cases | Uncertain significance | ClinVar | RCV000051175.6, VCV000057468.1 | 1 |