nsv3918507
- 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:26,387,093
- Description:GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)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: 85853 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 85717 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 21920 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 |
|---|---|---|---|---|---|---|---|
| nsv3918507 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 53,865,057 | 80,252,149 |
| nsv3918507 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 51,391,427 | 78,010,032 |
| nsv3918507 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 49,645,425 | 76,111,023 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134818 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136674.4, VCV000147495.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134818 | Submitted genomic | NC_000018.10:g.(?_ 53865057)_(8025214 9_?)del | GRCh38 (hg38) | NC_000018.10 | Chr18 | 53,865,057 | 80,252,149 |
| nssv15134818 | Submitted genomic | NC_000018.9:g.(?_5 1391427)_(78010032 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 51,391,427 | 78,010,032 |
| nssv15134818 | Submitted genomic | NC_000018.8:g.(?_4 9645425)_(76111023 _?)del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 49,645,425 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134818 | GRCh37: NC_000018.9:g.(?_51391427)_(78010032_?)del, GRCh38: NC_000018.10:g.(?_53865057)_(80252149_?)del, NCBI36: NC_000018.8:g.(?_49645425)_(76111023_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136674.4, VCV000147495.2 | 1 |