nsv3924911
- 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:3,617,224
- Description:GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)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: 16431 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 16354 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 3832 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 |
|---|---|---|---|---|---|---|---|
| nsv3924911 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 47,122,613 | 50,739,836 |
| nsv3924911 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 47,518,509 | 51,178,264 |
| nsv3924911 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 45,897,173 | 49,525,130 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133455 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051412.6, VCV000057674.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133455 | Submitted genomic | NC_000022.11:g.(?_ 47122613)_(5073983 6_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 47,122,613 | 50,739,836 |
| nssv15133455 | Submitted genomic | NC_000022.10:g.(?_ 47518509)_(5117826 4_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 47,518,509 | 51,178,264 |
| nssv15133455 | Submitted genomic | NC_000022.9:g.(?_4 5897173)_(49525130 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 45,897,173 | 49,525,130 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133455 | GRCh37: NC_000022.10:g.(?_47518509)_(51178264_?)del, GRCh38: NC_000022.11:g.(?_47122613)_(50739836_?)del, NCBI36: NC_000022.9:g.(?_45897173)_(49525130_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000051412.6, VCV000057674.2 | 1 |