nsv3921428
- 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:1,068,414
- Description:GRCh38/hg38 6p21.1(chr6:44993452-46061865)x3 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: 2487 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 2487 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 598 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921428 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 44,993,452 | 46,061,865 |
| nsv3921428 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 44,961,189 | 46,029,602 |
| nsv3921428 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 45,069,167 | 46,137,561 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119903 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000053342.4, VCV000059500.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119903 | Submitted genomic | NC_000006.12:g.(?_ 44993452)_(4606186 5_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 44,993,452 | 46,061,865 |
| nssv15119903 | Submitted genomic | NC_000006.11:g.(?_ 44961189)_(4602960 2_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 44,961,189 | 46,029,602 |
| nssv15119903 | Submitted genomic | NC_000006.10:g.(?_ 45069167)_(4613756 1_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 45,069,167 | 46,137,561 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119903 | GRCh37: NC_000006.11:g.(?_44961189)_(46029602_?)dup, GRCh38: NC_000006.12:g.(?_44993452)_(46061865_?)dup, NCBI36: NC_000006.10:g.(?_45069167)_(46137561_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000053342.4, VCV000059500.1 | 3 |