nsv3911937
- 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:491,085
- Description:GRCh38/hg38 19q13.32-13.33(chr19:47253630-47744714)x3 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: 1812 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1812 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 420 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911937 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 47,253,630 | 47,744,714 |
| nsv3911937 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 47,756,887 | 48,247,971 |
| nsv3911937 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 52,448,727 | 52,939,783 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136389 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000138849.4, VCV000149907.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136389 | Submitted genomic | NC_000019.10:g.(?_ 47253630)_(4774471 4_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 47,253,630 | 47,744,714 |
| nssv15136389 | Submitted genomic | NC_000019.9:g.(?_4 7756887)_(48247971 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 47,756,887 | 48,247,971 |
| nssv15136389 | Submitted genomic | NC_000019.8:g.(?_5 2448727)_(52939783 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 52,448,727 | 52,939,783 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136389 | GRCh37: NC_000019.9:g.(?_47756887)_(48247971_?)dup, GRCh38: NC_000019.10:g.(?_47253630)_(47744714_?)dup, NCBI36: NC_000019.8:g.(?_52448727)_(52939783_?)dup | copy number gain | not provided | See cases | Likely benign | ClinVar | RCV000138849.4, VCV000149907.2 | 3 |