nsv3919038
- 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:2,903,689
- Description:GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1 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: 6418 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 6420 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 1578 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919038 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 116,815,199 | 119,718,887 |
| nsv3919038 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 117,136,362 | 120,040,041 |
| nsv3919038 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 117,243,055 | 120,081,740 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137362 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000139944.4, VCV000151218.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137362 | Submitted genomic | NC_000006.12:g.(?_ 116815199)_(119718 887_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 116,815,199 | 119,718,887 |
| nssv15137362 | Submitted genomic | NC_000006.11:g.(?_ 117136362)_(120040 041_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 117,136,362 | 120,040,041 |
| nssv15137362 | Submitted genomic | NC_000006.10:g.(?_ 117243055)_(120081 740_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 117,243,055 | 120,081,740 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137362 | GRCh37: NC_000006.11:g.(?_117136362)_(120040041_?)del, GRCh38: NC_000006.12:g.(?_116815199)_(119718887_?)del, NCBI36: NC_000006.10:g.(?_117243055)_(120081740_?)del | copy number loss | not provided | See cases | Likely pathogenic | ClinVar | RCV000139944.4, VCV000151218.2 | 1 |