nsv4674077
- 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:725,668
- Description:GRCh37/hg19 2p11.2(chr2:88403403-89129064)x3 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: 2103 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 2105 SVs from 84 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674077 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 88,103,884 | 88,829,551 |
| nsv4674077 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 88,403,403 | 89,129,064 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206586 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005293.1, VCV000814281.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206586 | Remapped | Good | NC_000002.12:g.(?_ 88103884)_(8882955 1_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 88,103,884 | 88,829,551 |
| nssv16206586 | Submitted genomic | NC_000002.11:g.(?_ 88403403)_(8912906 4_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 88,403,403 | 89,129,064 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206586 | GRCh37: NC_000002.11:g.(?_88403403)_(89129064_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001005293.1, VCV000814281.1 | 3 |