nsv3911883
- 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:40,465
- Description:GRCh38/hg38 6p21.33(chr6:32051369-32091833)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: 323 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 323 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 116 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911883 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 32,051,369 | 32,091,833 |
| nsv3911883 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 32,019,146 | 32,059,610 |
| nsv3911883 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 32,127,124 | 32,167,588 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138478 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000140864.4, VCV000152283.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138478 | Submitted genomic | NC_000006.12:g.(?_ 32051369)_(3209183 3_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 32,051,369 | 32,091,833 |
| nssv15138478 | Submitted genomic | NC_000006.11:g.(?_ 32019146)_(3205961 0_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 32,019,146 | 32,059,610 |
| nssv15138478 | Submitted genomic | NC_000006.10:g.(?_ 32127124)_(3216758 8_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,127,124 | 32,167,588 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138478 | GRCh37: NC_000006.11:g.(?_32019146)_(32059610_?)dup, GRCh38: NC_000006.12:g.(?_32051369)_(32091833_?)dup, NCBI36: NC_000006.10:g.(?_32127124)_(32167588_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000140864.4, VCV000152283.2 | 3 |