nsv3922666
- 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:8,641,185
- Description:GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)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: 22900 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 22898 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 5839 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922666 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 75,453,111 | 84,094,295 |
| nsv3922666 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 76,378,321 | 85,015,448 |
| nsv3922666 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 76,597,345 | 85,234,472 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146323 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050786.5, VCV000057143.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146323 | Submitted genomic | NC_000004.12:g.(?_ 75453111)_(8409429 5_?)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 75,453,111 | 84,094,295 |
| nssv15146323 | Submitted genomic | NC_000004.11:g.(?_ 76378321)_(8501544 8_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 76,378,321 | 85,015,448 |
| nssv15146323 | Submitted genomic | NC_000004.10:g.(?_ 76597345)_(8523447 2_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 76,597,345 | 85,234,472 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146323 | GRCh37: NC_000004.11:g.(?_76378321)_(85015448_?)del, GRCh38: NC_000004.12:g.(?_75453111)_(84094295_?)del, NCBI36: NC_000004.10:g.(?_76597345)_(85234472_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000050786.5, VCV000057143.1 | 1 |