nsv3890590
- 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:41,678
- Description:GRCh37/hg19 18q22.3(chr18:72974307-73015984)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: 270 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 270 SVs from 43 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3890590 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 75,262,352 | 75,304,029 |
| nsv3890590 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 72,974,307 | 73,015,984 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15173684 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000752411.2, VCV000615775.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15173684 | Remapped | Perfect | NC_000018.10:g.(?_ 75262352)_(7530402 9_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 75,262,352 | 75,304,029 |
| nssv15173684 | Submitted genomic | NC_000018.9:g.(?_7 2974307)_(73015984 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 72,974,307 | 73,015,984 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15173684 | GRCh37: NC_000018.9:g.(?_72974307)_(73015984_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000752411.2, VCV000615775.2 | 1 |