nsv3911787
- 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:47,929
- Description:GRCh38/hg38 19p12(chr19:22071063-22118991)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: 381 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 381 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911787 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 22,071,063 | 22,118,991 |
| nsv3911787 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 22,253,865 | 22,301,793 |
| nsv3911787 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 22,045,705 | 22,093,633 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134500 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000135915.4, VCV000146659.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134500 | Submitted genomic | NC_000019.10:g.(?_ 22071063)_(2211899 1_?)del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 22,071,063 | 22,118,991 |
| nssv15134500 | Submitted genomic | NC_000019.9:g.(?_2 2253865)_(22301793 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 22,253,865 | 22,301,793 |
| nssv15134500 | Submitted genomic | NC_000019.8:g.(?_2 2045705)_(22093633 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 22,045,705 | 22,093,633 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134500 | GRCh37: NC_000019.9:g.(?_22253865)_(22301793_?)del, GRCh38: NC_000019.10:g.(?_22071063)_(22118991_?)del, NCBI36: NC_000019.8:g.(?_22045705)_(22093633_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000135915.4, VCV000146659.2 | 1 |