nsv3884970
- 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:105
- Description:GRCh37/hg19 2q37.3(chr2:238475200-238475304)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: 125 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3884970 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 237,566,557 | 237,566,661 |
| nsv3884970 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 238,475,200 | 238,475,304 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15140328 | copy number gain | Multiple | Multiple | See cases | conflicting data from submitters | ClinVar | RCV000446319.3, VCV000394723.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15140328 | Remapped | Perfect | NC_000002.12:g.(?_ 237566557)_(237566 661_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 237,566,557 | 237,566,661 |
| nssv15140328 | Submitted genomic | NC_000002.11:g.(?_ 238475200)_(238475 304_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 238,475,200 | 238,475,304 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15140328 | GRCh37: NC_000002.11:g.(?_238475200)_(238475304_?)dup | copy number gain | not provided | See cases | conflicting data from submitters | ClinVar | RCV000446319.3, VCV000394723.3 | 3 |