nsv3918008
- 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:25,075,583
- Description:GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)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: 82610 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 82497 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 21095 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 |
|---|---|---|---|---|---|---|---|
| nsv3918008 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 55,179,364 | 80,254,946 |
| nsv3918008 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 52,846,595 | 78,012,829 |
| nsv3918008 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 50,997,593 | 76,113,817 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135195 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137375.5, VCV000148300.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135195 | Submitted genomic | NC_000018.10:g.(?_ 55179364)_(8025494 6_?)del | GRCh38 (hg38) | NC_000018.10 | Chr18 | 55,179,364 | 80,254,946 |
| nssv15135195 | Submitted genomic | NC_000018.9:g.(?_5 2846595)_(78012829 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 52,846,595 | 78,012,829 |
| nssv15135195 | Submitted genomic | NC_000018.8:g.(?_5 0997593)_(76113817 _?)del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 50,997,593 | 76,113,817 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135195 | GRCh37: NC_000018.9:g.(?_52846595)_(78012829_?)del, GRCh38: NC_000018.10:g.(?_55179364)_(80254946_?)del, NCBI36: NC_000018.8:g.(?_50997593)_(76113817_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000137375.5, VCV000148300.2 | 1 |