nsv3904056
- 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:18,229,681
- Description:GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 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: 43161 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 43194 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 12275 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3904056 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 163,965,382 | 182,195,062 |
| nsv3904056 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 164,821,892 | 183,059,789 |
| nsv3904056 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 164,530,138 | 182,768,034 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134479 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054122.5, VCV000060248.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134479 | Submitted genomic | NC_000002.12:g.(?_ 163965382)_(182195 062_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 163,965,382 | 182,195,062 |
| nssv15134479 | Submitted genomic | NC_000002.11:g.(?_ 164821892)_(183059 789_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 164,821,892 | 183,059,789 |
| nssv15134479 | Submitted genomic | NC_000002.10:g.(?_ 164530138)_(182768 034_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 164,530,138 | 182,768,034 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134479 | GRCh37: NC_000002.11:g.(?_164821892)_(183059789_?)del, GRCh38: NC_000002.12:g.(?_163965382)_(182195062_?)del, NCBI36: NC_000002.10:g.(?_164530138)_(182768034_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000054122.5, VCV000060248.1 | 1 |