nsv3918084
- 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:7,384,986
- Description:GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)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: 17384 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 17384 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 4681 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918084 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 85,804,273 | 93,189,258 |
| nsv3918084 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 86,513,991 | 93,898,976 |
| nsv3918084 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 86,570,710 | 93,955,697 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132888 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135450.4, VCV000146127.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132888 | Submitted genomic | NC_000006.12:g.(?_ 85804273)_(9318925 8_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 85,804,273 | 93,189,258 |
| nssv15132888 | Submitted genomic | NC_000006.11:g.(?_ 86513991)_(9389897 6_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 86,513,991 | 93,898,976 |
| nssv15132888 | Submitted genomic | NC_000006.10:g.(?_ 86570710)_(9395569 7_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 86,570,710 | 93,955,697 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132888 | GRCh37: NC_000006.11:g.(?_86513991)_(93898976_?)del, GRCh38: NC_000006.12:g.(?_85804273)_(93189258_?)del, NCBI36: NC_000006.10:g.(?_86570710)_(93955697_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135450.4, VCV000146127.2 | 1 |