nsv3921458
- 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:10,069,768
- Description:GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879) 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: 13020 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 12867 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 3011 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921458 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 13,340,112 | 23,409,879 |
| nsv3921458 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 13,340,111 | 20,989,843 |
| nsv3921458 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 13,330,111 | 19,243,841 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15139897 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143455.5, VCV000155388.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139897 | Submitted genomic | NC_000018.10:g.(?_ 13340112)_(2340987 9_?)dup | GRCh38 (hg38) | NC_000018.10 | Chr18 | 13,340,112 | 23,409,879 |
| nssv15139897 | Submitted genomic | NC_000018.9:g.(?_1 3340111)_(20989843 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 13,340,111 | 20,989,843 |
| nssv15139897 | Submitted genomic | NC_000018.8:g.(?_1 3330111)_(19243841 _?)dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 13,330,111 | 19,243,841 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15139897 | GRCh37: NC_000018.9:g.(?_13340111)_(20989843_?)dup, GRCh38: NC_000018.10:g.(?_13340112)_(23409879_?)dup, NCBI36: NC_000018.8:g.(?_13330111)_(19243841_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143455.5, VCV000155388.2 |