nsv3922769
- 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:1,517,448
- Description:GRCh38/hg38 6p23-22.3(chr6:14545345-16062792)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: 4303 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 4303 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1124 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922769 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 14,545,345 | 16,062,792 |
| nsv3922769 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 14,545,576 | 16,063,023 |
| nsv3922769 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 14,653,555 | 16,171,002 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135268 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000136138.4, VCV000146914.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135268 | Submitted genomic | NC_000006.12:g.(?_ 14545345)_(1606279 2_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 14,545,345 | 16,062,792 |
| nssv15135268 | Submitted genomic | NC_000006.11:g.(?_ 14545576)_(1606302 3_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 14,545,576 | 16,063,023 |
| nssv15135268 | Submitted genomic | NC_000006.10:g.(?_ 14653555)_(1617100 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 14,653,555 | 16,171,002 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135268 | GRCh37: NC_000006.11:g.(?_14545576)_(16063023_?)dup, GRCh38: NC_000006.12:g.(?_14545345)_(16062792_?)dup, NCBI36: NC_000006.10:g.(?_14653555)_(16171002_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000136138.4, VCV000146914.2 | 3 |