nsv3916853
- 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:918,386
- Description:GRCh38/hg38 4q35.2(chr4:189099800-190018185)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: 8155 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 8177 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 2106 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 |
|---|---|---|---|---|---|---|---|
| nsv3916853 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 189,099,800 | 190,018,185 |
| nsv3916853 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 190,020,954 | 190,939,340 |
| nsv3916853 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 190,257,948 | 191,176,334 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121310 | copy number loss | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000140393.3, VCV000151689.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121310 | Submitted genomic | NC_000004.12:g.(?_ 189099800)_(190018 185_?)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 189,099,800 | 190,018,185 |
| nssv15121310 | Submitted genomic | NC_000004.11:g.(?_ 190020954)_(190939 340_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 190,020,954 | 190,939,340 |
| nssv15121310 | Submitted genomic | NC_000004.10:g.(?_ 190257948)_(191176 334_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 190,257,948 | 191,176,334 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121310 | GRCh37: NC_000004.11:g.(?_190020954)_(190939340_?)del, GRCh38: NC_000004.12:g.(?_189099800)_(190018185_?)del, NCBI36: NC_000004.10:g.(?_190257948)_(191176334_?)del | copy number loss | not provided | See cases | Likely benign | ClinVar | RCV000140393.3, VCV000151689.1 | 1 |