nsv3898965
- 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:440,044
- Description:GRCh38/hg38 1q21.3(chr1:151858531-152298574)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: 1356 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1364 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 349 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3898965 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 151,858,531 | 152,298,574 |
| nsv3898965 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 151,831,007 | 152,271,050 |
| nsv3898965 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 150,097,631 | 150,537,674 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139968 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000143761.4, VCV000155694.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139968 | Submitted genomic | NC_000001.11:g.(?_ 151858531)_(152298 574_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 151,858,531 | 152,298,574 |
| nssv15139968 | Submitted genomic | NC_000001.10:g.(?_ 151831007)_(152271 050_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 151,831,007 | 152,271,050 |
| nssv15139968 | Submitted genomic | NC_000001.9:g.(?_1 50097631)_(1505376 74_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 150,097,631 | 150,537,674 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139968 | GRCh37: NC_000001.10:g.(?_151831007)_(152271050_?)del, GRCh38: NC_000001.11:g.(?_151858531)_(152298574_?)del, NCBI36: NC_000001.9:g.(?_150097631)_(150537674_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000143761.4, VCV000155694.2 | 1 |