nsv3895187
- 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:3,042,021
- Description:GRCh37/hg19 7p14.1(chr7:37213108-40255122)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: 8860 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 8860 SVs from 119 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3895187 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 37,173,503 | 40,215,523 |
nsv3895187 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 37,213,108 | 40,255,122 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15166972 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000746632.2, VCV000609996.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15166972 | Remapped | Perfect | NC_000007.14:g.(?_ 37173503)_(4021552 3_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 37,173,503 | 40,215,523 |
nssv15166972 | Submitted genomic | NC_000007.13:g.(?_ 37213108)_(4025512 2_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 37,213,108 | 40,255,122 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15166972 | GRCh37: NC_000007.13:g.(?_37213108)_(40255122_?)dup | copy number gain | maternal | not provided | Pathogenic | ClinVar | RCV000746632.2, VCV000609996.2 | 3 |