nsv3913481
- 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:725,543
- Description:GRCh38/hg38 6p21.1(chr6:43656888-44382430)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: 2026 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 2026 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 417 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913481 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 43,656,888 | 44,382,430 |
| nsv3913481 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 43,624,625 | 44,350,167 |
| nsv3913481 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 43,732,603 | 44,458,145 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137749 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000140726.5, VCV000152076.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137749 | Submitted genomic | NC_000006.12:g.(?_ 43656888)_(4438243 0_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 43,656,888 | 44,382,430 |
| nssv15137749 | Submitted genomic | NC_000006.11:g.(?_ 43624625)_(4435016 7_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 43,624,625 | 44,350,167 |
| nssv15137749 | Submitted genomic | NC_000006.10:g.(?_ 43732603)_(4445814 5_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 43,732,603 | 44,458,145 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137749 | GRCh37: NC_000006.11:g.(?_43624625)_(44350167_?)dup, GRCh38: NC_000006.12:g.(?_43656888)_(44382430_?)dup, NCBI36: NC_000006.10:g.(?_43732603)_(44458145_?)dup | copy number gain | maternal | See cases | Likely benign | ClinVar | RCV000140726.5, VCV000152076.2 | 3 |