nsv6637135
- 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:1,323,557
- Description:GRCh37/hg19 7p21.2-21.1(chr7:15639869-16963424)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: 3656 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 3656 SVs from 105 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637135 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 15,600,244 | 16,923,800 |
| nsv6637135 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 15,639,869 | 16,963,424 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329673 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472895.1, VCV001808089.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329673 | Remapped | Perfect | NC_000007.14:g.(?_ 15600244)_(1692380 0_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 15,600,244 | 16,923,800 |
| nssv18329673 | Submitted genomic | NC_000007.13:g.(?_ 15639869)_(1696342 4_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 15,639,869 | 16,963,424 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329673 | GRCh37: NC_000007.13:g.(?_15639869)_(16963424_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002472895.1, VCV001808089.1 | 3 |