nsv3920123
- 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:2,237,862
- Description:GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)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: 6619 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 6619 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 1743 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920123 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 100,262,836 | 102,500,697 |
| nsv3920123 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 100,729,173 | 102,967,034 |
| nsv3920123 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 99,798,926 | 102,036,787 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137618 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139723.5, VCV000150931.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137618 | Submitted genomic | NC_000014.9:g.(?_1 00262836)_(1025006 97_?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 100,262,836 | 102,500,697 |
| nssv15137618 | Submitted genomic | NC_000014.8:g.(?_1 00729173)_(1029670 34_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 100,729,173 | 102,967,034 |
| nssv15137618 | Submitted genomic | NC_000014.7:g.(?_9 9798926)_(10203678 7_?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 99,798,926 | 102,036,787 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137618 | GRCh37: NC_000014.8:g.(?_100729173)_(102967034_?)del, GRCh38: NC_000014.9:g.(?_100262836)_(102500697_?)del, NCBI36: NC_000014.7:g.(?_99798926)_(102036787_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000139723.5, VCV000150931.2 | 1 |