nsv4613150
- 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:1,871
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: 234 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 234 SVs from 37 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4613150 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 47,760,000 | 47,761,870 |
nsv4613150 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 47,799,598 | 47,801,468 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16115042 | duplication | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16115042 | Remapped | Perfect | NC_000007.14:g.(?_ 47760000)_(4776187 0_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 47,760,000 | 47,761,870 |
nssv16115042 | Submitted genomic | NC_000007.13:g.(?_ 47799598)_(4780146 8_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 47,799,598 | 47,801,468 |
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) |
---|---|---|---|
nssv16115042 | 0.125 | 5 | 40 |