nsv3913212
- 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:685,882
- Description:GRCh38/hg38 6q23.2(chr6:132455272-133141153)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: 1684 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1684 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 436 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913212 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 132,455,272 | 133,141,153 |
| nsv3913212 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 132,776,411 | 133,462,292 |
| nsv3913212 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 132,818,104 | 133,503,985 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119907 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000053388.4, VCV000059545.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119907 | Submitted genomic | NC_000006.12:g.(?_ 132455272)_(133141 153_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 132,455,272 | 133,141,153 |
| nssv15119907 | Submitted genomic | NC_000006.11:g.(?_ 132776411)_(133462 292_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 132,776,411 | 133,462,292 |
| nssv15119907 | Submitted genomic | NC_000006.10:g.(?_ 132818104)_(133503 985_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 132,818,104 | 133,503,985 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119907 | GRCh37: NC_000006.11:g.(?_132776411)_(133462292_?)dup, GRCh38: NC_000006.12:g.(?_132455272)_(133141153_?)dup, NCBI36: NC_000006.10:g.(?_132818104)_(133503985_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000053388.4, VCV000059545.1 | 3 |