nsv3900015
- 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:8,754,002
- Description:GRCh37/hg19 12q22-23.2(chr12:94881995-103635998)x3 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: 21796 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 21798 SVs from 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3900015 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 94,488,219 | 103,242,220 |
| nsv3900015 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 94,881,995 | 103,635,998 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15172655 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000750524.2, VCV000613888.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15172655 | Remapped | Perfect | NC_000012.12:g.(?_ 94488219)_(1032422 20_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 94,488,219 | 103,242,220 |
| nssv15172655 | Submitted genomic | NC_000012.11:g.(?_ 94881995)_(1036359 98_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 94,881,995 | 103,635,998 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15172655 | GRCh37: NC_000012.11:g.(?_94881995)_(103635998_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000750524.2, VCV000613888.2 | 3 |