nsv3922248
- 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:6,970,215
- Description:GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)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: 17938 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 17918 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 4518 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922248 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 71,128,874 | 78,099,088 |
| nsv3922248 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 71,994,591 | 79,020,242 |
| nsv3922248 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 72,213,455 | 79,239,266 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133498 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051774.5, VCV000058031.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133498 | Submitted genomic | NC_000004.12:g.(?_ 71128874)_(7809908 8_?)dup | GRCh38 (hg38) | NC_000004.12 | Chr4 | 71,128,874 | 78,099,088 |
| nssv15133498 | Submitted genomic | NC_000004.11:g.(?_ 71994591)_(7902024 2_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 71,994,591 | 79,020,242 |
| nssv15133498 | Submitted genomic | NC_000004.10:g.(?_ 72213455)_(7923926 6_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 72,213,455 | 79,239,266 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133498 | GRCh37: NC_000004.11:g.(?_71994591)_(79020242_?)dup, GRCh38: NC_000004.12:g.(?_71128874)_(78099088_?)dup, NCBI36: NC_000004.10:g.(?_72213455)_(79239266_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051774.5, VCV000058031.1 | 3 |