nsv3911249
- 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:1,159,785
- Description:GRCh38/hg38 6p21.2(chr6:39127448-40287232)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: 2291 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 2289 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 601 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911249 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 39,127,448 | 40,287,232 |
| nsv3911249 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 39,095,224 | 40,254,971 |
| nsv3911249 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 39,203,202 | 40,362,949 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132717 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000134152.6, VCV000144731.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132717 | Submitted genomic | NC_000006.12:g.(?_ 39127448)_(4028723 2_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 39,127,448 | 40,287,232 |
| nssv15132717 | Submitted genomic | NC_000006.11:g.(?_ 39095224)_(4025497 1_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 39,095,224 | 40,254,971 |
| nssv15132717 | Submitted genomic | NC_000006.10:g.(?_ 39203202)_(4036294 9_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 39,203,202 | 40,362,949 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132717 | GRCh37: NC_000006.11:g.(?_39095224)_(40254971_?)dup, GRCh38: NC_000006.12:g.(?_39127448)_(40287232_?)dup, NCBI36: NC_000006.10:g.(?_39203202)_(40362949_?)dup | copy number gain | maternal | See cases | Likely benign | ClinVar | RCV000134152.6, VCV000144731.2 | 3 |