nsv3898390
- 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:164,455
- Description:GRCh37/hg19 7q11.22(chr7:69848278-70012732)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: 484 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 484 SVs from 64 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3898390 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 70,383,292 | 70,547,746 |
| nsv3898390 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 69,848,278 | 70,012,732 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15154483 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000682802.1, VCV000563313.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15154483 | Remapped | Perfect | NC_000007.14:g.(?_ 70383292)_(7054774 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 70,383,292 | 70,547,746 |
| nssv15154483 | Submitted genomic | NC_000007.13:g.(?_ 69848278)_(7001273 2_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 69,848,278 | 70,012,732 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15154483 | GRCh37: NC_000007.13:g.(?_69848278)_(70012732_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000682802.1, VCV000563313.1 | 3 |