nsv3923416
- 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:1,271,989
- Description:GRCh38/hg38 4q31.3-32.1(chr4:153656785-154928773)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: 3106 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 3106 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 816 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923416 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 153,656,785 | 154,928,773 |
| nsv3923416 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 154,577,937 | 155,849,925 |
| nsv3923416 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 154,797,387 | 156,069,375 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133200 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053324.5, VCV000059482.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133200 | Submitted genomic | NC_000004.12:g.(?_ 153656785)_(154928 773_?)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 153,656,785 | 154,928,773 |
| nssv15133200 | Submitted genomic | NC_000004.11:g.(?_ 154577937)_(155849 925_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 154,577,937 | 155,849,925 |
| nssv15133200 | Submitted genomic | NC_000004.10:g.(?_ 154797387)_(156069 375_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 154,797,387 | 156,069,375 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133200 | GRCh37: NC_000004.11:g.(?_154577937)_(155849925_?)del, GRCh38: NC_000004.12:g.(?_153656785)_(154928773_?)del, NCBI36: NC_000004.10:g.(?_154797387)_(156069375_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053324.5, VCV000059482.1 | 1 |