nsv3923838
- 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:80,095,419
- Description:GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 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: 213632 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 213393 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 54181 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923838 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 148,963 | 80,244,381 |
| nsv3923838 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 148,963 | 78,002,264 |
| nsv3923838 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 138,963 | 76,103,255 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145762 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052514.4, VCV000058729.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145762 | Submitted genomic | NC_000018.10:g.(?_ 148963)_(80244381_ ?)dup | GRCh38 (hg38) | NC_000018.10 | Chr18 | 148,963 | 80,244,381 |
| nssv15145762 | Submitted genomic | NC_000018.9:g.(?_1 48963)_(78002264_? )dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 148,963 | 78,002,264 |
| nssv15145762 | Submitted genomic | NC_000018.8:g.(?_1 38963)_(76103255_? )dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 138,963 | 76,103,255 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145762 | GRCh37: NC_000018.9:g.(?_148963)_(78002264_?)dup, GRCh38: NC_000018.10:g.(?_148963)_(80244381_?)dup, NCBI36: NC_000018.8:g.(?_138963)_(76103255_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052514.4, VCV000058729.1 | 3 |