nsv4627588
- 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:41,092
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: 264 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 264 SVs from 54 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4627588 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 49,015,591 | 49,056,682 |
| nsv4627588 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 49,518,848 | 49,559,939 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16132427 | duplication | Curated | Curated |
| nssv16148431 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16132427 | Remapped | Perfect | NC_000019.10:g.(?_ 49015591)_(4905668 2_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 49,015,591 | 49,056,682 |
| nssv16148431 | Remapped | Perfect | NC_000019.10:g.(?_ 49015591)_(4905668 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 49,015,591 | 49,056,682 |
| nssv16132427 | Submitted genomic | NC_000019.9:g.(?_4 9518848)_(49559939 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 49,518,848 | 49,559,939 | ||
| nssv16148431 | Submitted genomic | NC_000019.9:g.(?_4 9518848)_(49559939 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 49,518,848 | 49,559,939 |
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) |
|---|---|---|---|
| nssv16132427 | 0.025 | 1 | 40 |
| nssv16148431 | 0.002 | 1 | 450 |