nsv3875075
- 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:3,869
- Description:GRCh37/hg19 2q37.1(chr2:234262974-234266842)x0 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: 102 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 35 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 102 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3875075 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 233,354,328 | 233,358,196 |
| nsv3875075 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332690.1 | Chr2|NW_01 1332690.1 | 299,666 | 303,534 |
| nsv3875075 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 234,262,974 | 234,266,842 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15162359 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000740958.2, VCV000604322.2 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15162359 | Remapped | Perfect | NW_011332690.1:g.( ?_299666)_(303534_ ?)del | GRCh38.p12 | Second Pass | NW_011332690.1 | Chr2|NW_01 1332690.1 | 299,666 | 303,534 |
| nssv15162359 | Remapped | Perfect | NC_000002.12:g.(?_ 233354328)_(233358 196_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 233,354,328 | 233,358,196 |
| nssv15162359 | Submitted genomic | NC_000002.11:g.(?_ 234262974)_(234266 842_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 234,262,974 | 234,266,842 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15162359 | GRCh37: NC_000002.11:g.(?_234262974)_(234266842_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000740958.2, VCV000604322.2 | 0 |