nsv3922441
- 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:4,121,281
- Description:GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)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: 10956 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 10956 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 2528 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922441 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 75,489,052 | 79,610,332 |
| nsv3922441 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 75,955,395 | 80,076,675 |
| nsv3922441 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 75,025,148 | 79,146,428 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120314 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051549.8, VCV000057809.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120314 | Submitted genomic | NC_000014.9:g.(?_7 5489052)_(79610332 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 75,489,052 | 79,610,332 |
| nssv15120314 | Submitted genomic | NC_000014.8:g.(?_7 5955395)_(80076675 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 75,955,395 | 80,076,675 |
| nssv15120314 | Submitted genomic | NC_000014.7:g.(?_7 5025148)_(79146428 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 75,025,148 | 79,146,428 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120314 | GRCh37: NC_000014.8:g.(?_75955395)_(80076675_?)del, GRCh38: NC_000014.9:g.(?_75489052)_(79610332_?)del, NCBI36: NC_000014.7:g.(?_75025148)_(79146428_?)del | copy number loss | maternal | See cases | Pathogenic | ClinVar | RCV000051549.8, VCV000057809.1 | 1 |