nsv3924928
- 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:547,896
- Description:GRCh38/hg38 18q22.1(chr18:66242392-66790287)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: 2132 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 2132 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 680 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924928 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 66,242,392 | 66,790,287 |
| nsv3924928 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 63,909,629 | 64,457,524 |
| nsv3924928 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 62,060,609 | 62,608,504 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137896 | copy number loss | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000142825.4, VCV000154758.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137896 | Submitted genomic | NC_000018.10:g.(?_ 66242392)_(6679028 7_?)del | GRCh38 (hg38) | NC_000018.10 | Chr18 | 66,242,392 | 66,790,287 |
| nssv15137896 | Submitted genomic | NC_000018.9:g.(?_6 3909629)_(64457524 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 63,909,629 | 64,457,524 |
| nssv15137896 | Submitted genomic | NC_000018.8:g.(?_6 2060609)_(62608504 _?)del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 62,060,609 | 62,608,504 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137896 | GRCh37: NC_000018.9:g.(?_63909629)_(64457524_?)del, GRCh38: NC_000018.10:g.(?_66242392)_(66790287_?)del, NCBI36: NC_000018.8:g.(?_62060609)_(62608504_?)del | copy number loss | not provided | See cases | Likely benign | ClinVar | RCV000142825.4, VCV000154758.2 | 1 |