nsv4583832
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,504
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: 127 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 127 SVs from 18 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4583832 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 28,799,161 | 28,802,664 |
nsv4583832 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 29,022,027 | 29,025,530 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16096893 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16096893 | Remapped | Perfect | NC_000002.12:g.(?_ 28799161)_(2880266 4_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 28,799,161 | 28,802,664 |
nssv16096893 | Submitted genomic | NC_000002.11:g.(?_ 29022027)_(2902553 0_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 29,022,027 | 29,025,530 |
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) |
---|---|---|---|
nssv16096893 | 0.001 | 1 | 845 |