nsv3923561
- 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:4,465,908
- Description:
GRCh38/hg38 19p13.3(chr19:233565-4699472)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: 26720 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 26722 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 6483 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923561 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 233,565 | 4,699,472 |
| nsv3923561 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 233,565 | 4,699,484 |
| nsv3923561 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 184,565 | 4,650,484 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146429 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052575.8, VCV000058787.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146429 | Submitted genomic | NC_000019.10:g.(?_ 233565)_(4699472_? )dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 233,565 | 4,699,472 |
| nssv15146429 | Submitted genomic | NC_000019.9:g.(?_2 33565)_(4699484_?) dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 233,565 | 4,699,484 |
| nssv15146429 | Submitted genomic | NC_000019.8:g.(?_1 84565)_(4650484_?) dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 184,565 | 4,650,484 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146429 | GRCh37: NC_000019.9:g.(?_233565)_(4699484_?)dup, GRCh38: NC_000019.10:g.(?_233565)_(4699472_?)dup, NCBI36: NC_000019.8:g.(?_184565)_(4650484_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000052575.8, VCV000058787.2 | 3 |