nsv3873515
- 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:865
- Description:GRCh37/hg19 6p21.2(chr6:37851595-37852459)x0 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: 141 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 141 SVs from 44 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3873515 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 37,883,819 | 37,884,683 |
nsv3873515 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 37,851,595 | 37,852,459 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15167028 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000745649.2, VCV000609013.2 | 0 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15167028 | Remapped | Perfect | NC_000006.12:g.(?_ 37883819)_(3788468 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 37,883,819 | 37,884,683 |
nssv15167028 | Submitted genomic | NC_000006.11:g.(?_ 37851595)_(3785245 9_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 37,851,595 | 37,852,459 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15167028 | GRCh37: NC_000006.11:g.(?_37851595)_(37852459_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000745649.2, VCV000609013.2 | 0 |