nsv3919004
- 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:80,120,015
- Description:GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)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: 213752 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 213513 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 54201 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 |
|---|---|---|---|---|---|---|---|
| nsv3919004 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 136,226 | 80,256,240 |
| nsv3919004 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 136,226 | 78,014,123 |
| nsv3919004 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 126,226 | 76,115,097 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148237 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143218.5, VCV000155151.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148237 | Submitted genomic | NC_000018.10:g.(?_ 136226)_(80256240_ ?)dup | GRCh38 (hg38) | NC_000018.10 | Chr18 | 136,226 | 80,256,240 |
| nssv15148237 | Submitted genomic | NC_000018.9:g.(?_1 36226)_(78014123_? )dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 136,226 | 78,014,123 |
| nssv15148237 | Submitted genomic | NC_000018.8:g.(?_1 26226)_(76115097_? )dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 126,226 | 76,115,097 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148237 | GRCh37: NC_000018.9:g.(?_136226)_(78014123_?)dup, GRCh38: NC_000018.10:g.(?_136226)_(80256240_?)dup, NCBI36: NC_000018.8:g.(?_126226)_(76115097_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143218.5, VCV000155151.2 | 3 |