nsv3916196
- 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:29,061,721
- Description:GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)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: 93023 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 92887 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 24063 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916196 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 51,190,429 | 80,252,149 |
| nsv3916196 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 48,716,799 | 78,010,032 |
| nsv3916196 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 46,970,797 | 76,111,023 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132872 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135413.4, VCV000146087.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132872 | Submitted genomic | NC_000018.10:g.(?_ 51190429)_(8025214 9_?)del | GRCh38 (hg38) | NC_000018.10 | Chr18 | 51,190,429 | 80,252,149 |
| nssv15132872 | Submitted genomic | NC_000018.9:g.(?_4 8716799)_(78010032 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 48,716,799 | 78,010,032 |
| nssv15132872 | Submitted genomic | NC_000018.8:g.(?_4 6970797)_(76111023 _?)del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 46,970,797 | 76,111,023 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132872 | GRCh37: NC_000018.9:g.(?_48716799)_(78010032_?)del, GRCh38: NC_000018.10:g.(?_51190429)_(80252149_?)del, NCBI36: NC_000018.8:g.(?_46970797)_(76111023_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135413.4, VCV000146087.2 | 1 |