nsv4685764
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,634,876
- Description:GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 28458 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 28451 SVs from 128 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685764 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 47,436,585 | 54,071,460 |
| nsv4685764 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 47,939,842 | 54,626,871 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16216675 | copy number gain | Multiple | Multiple | not provided | not provided | ClinVar | RCV001249294.1, VCV000972980.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216675 | Remapped | Good | NC_000019.10:g.(?_ 47436585)_(5407146 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 47,436,585 | 54,071,460 |
| nssv16216675 | Submitted genomic | NC_000019.9:g.(?_4 7939842)_(54626871 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 47,939,842 | 54,626,871 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16216675 | GRCh37: NC_000019.9:g.(?_47939842)_(54626871_?)dup | copy number gain | unknown | not provided | not provided | ClinVar | RCV001249294.1, VCV000972980.1 |