nsv4585591
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:184,336
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1733 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1733 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4585591 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 1,704,882 | 1,889,217 |
| nsv4585591 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 1,746,566 | 1,930,901 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16096796 | deletion | Curated | Curated |
| nssv16103351 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16096796 | Remapped | Perfect | NC_000003.12:g.(?_ 1704882)_(1889217_ ?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 1,704,882 | 1,889,217 |
| nssv16103351 | Remapped | Perfect | NC_000003.12:g.(?_ 1704882)_(1889217_ ?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 1,704,882 | 1,889,217 |
| nssv16096796 | Submitted genomic | NC_000003.11:g.(?_ 1746566)_(1930901_ ?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 1,746,566 | 1,930,901 | ||
| nssv16103351 | Submitted genomic | NC_000003.11:g.(?_ 1746566)_(1930901_ ?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 1,746,566 | 1,930,901 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16096796 | <0.001 | 1 | 5919 |
| nssv16103351 | <0.001 | 1 | 5919 |