nsv3923753
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,562,745
- Description:GRCh38/hg38 6p12.1(chr6:54263893-56826637)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 6797 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 6797 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 1751 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923753 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 54,263,893 | 56,826,637 |
| nsv3923753 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 54,128,691 | 56,691,435 |
| nsv3923753 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 54,236,650 | 56,799,394 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120612 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052183.4, VCV000058429.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120612 | Submitted genomic | NC_000006.12:g.(?_ 54263893)_(5682663 7_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 54,263,893 | 56,826,637 |
| nssv15120612 | Submitted genomic | NC_000006.11:g.(?_ 54128691)_(5669143 5_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 54,128,691 | 56,691,435 |
| nssv15120612 | Submitted genomic | NC_000006.10:g.(?_ 54236650)_(5679939 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 54,236,650 | 56,799,394 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120612 | GRCh37: NC_000006.11:g.(?_54128691)_(56691435_?)del, GRCh38: NC_000006.12:g.(?_54263893)_(56826637_?)del, NCBI36: NC_000006.10:g.(?_54236650)_(56799394_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052183.4, VCV000058429.1 | 1 |