nsv3919674
- 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:4,723,795
- Description:GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)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: 13480 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 5763 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 1556 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919674 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 45,931,517 | 50,655,311 |
| nsv3919674 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 49,430,980 | 52,415,071 |
| nsv3919674 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 49,100,986 | 52,085,077 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147056 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052320.5, VCV000058551.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147056 | Submitted genomic | NC_000010.11:g.(?_ 45931517)_(5065531 1_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 45,931,517 | 50,655,311 |
| nssv15147056 | Submitted genomic | NC_000010.10:g.(?_ 49430980)_(5241507 1_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 49,430,980 | 52,415,071 |
| nssv15147056 | Submitted genomic | NC_000010.9:g.(?_4 9100986)_(52085077 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 49,100,986 | 52,085,077 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147056 | GRCh37: NC_000010.10:g.(?_49430980)_(52415071_?)del, GRCh38: NC_000010.11:g.(?_45931517)_(50655311_?)del, NCBI36: NC_000010.9:g.(?_49100986)_(52085077_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052320.5, VCV000058551.1 | 1 |