nsv4455688
- 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:213,532
- Description:GRCh37/hg19 7q21.3(chr7:93332477-93546008)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: 775 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 775 SVs from 87 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4455688 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 93,703,165 | 93,916,696 |
nsv4455688 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 93,332,477 | 93,546,008 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15775293 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000847089.2, VCV000686381.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15775293 | Remapped | Perfect | NC_000007.14:g.(?_ 93703165)_(9391669 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 93,703,165 | 93,916,696 |
nssv15775293 | Submitted genomic | NC_000007.13:g.(?_ 93332477)_(9354600 8_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 93,332,477 | 93,546,008 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15775293 | GRCh37: NC_000007.13:g.(?_93332477)_(93546008_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000847089.2, VCV000686381.2 | 3 |