nsv3893146
- 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:314,670
- Description:GRCh37/hg19 7q11.22(chr7:69617684-69932353)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: 705 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 705 SVs from 54 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3893146 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 70,152,698 | 70,467,367 |
nsv3893146 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 69,617,684 | 69,932,353 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15151489 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000682823.2, VCV000563334.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15151489 | Remapped | Perfect | NC_000007.14:g.(?_ 70152698)_(7046736 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 70,152,698 | 70,467,367 |
nssv15151489 | Submitted genomic | NC_000007.13:g.(?_ 69617684)_(6993235 3_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 69,617,684 | 69,932,353 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15151489 | GRCh37: NC_000007.13:g.(?_69617684)_(69932353_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000682823.2, VCV000563334.2 | 1 |