nsv3875054
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:697,062
- Description:GRCh37/hg19 3p14.1(chr3:68461188-69158250)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2016 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2018 SVs from 95 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3875054 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 68,412,038 | 69,109,099 |
| nsv3875054 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 68,461,188 | 69,158,250 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15154302 | copy number loss | Multiple | Multiple | not provided | not provided | ClinVar | RCV000709799.1, VCV000585228.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15154302 | Remapped | Perfect | NC_000003.12:g.(?_ 68412038)_(6910909 9_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 68,412,038 | 69,109,099 |
| nssv15154302 | Submitted genomic | NC_000003.11:g.(?_ 68461188)_(6915825 0_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 68,461,188 | 69,158,250 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15154302 | GRCh37: NC_000003.11:g.(?_68461188)_(69158250_?)del | copy number loss | unknown | not provided | not provided | ClinVar | RCV000709799.1, VCV000585228.1 | 1 |