A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458512



Internal ID15171891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:20643886..20858544hg38UCSC Ensembl
Innerchr19:20826692..21041350hg19UCSC Ensembl
Innerchr19:20618532..20833190hg18UCSC Ensembl
Innerchr19:20618532..20833190hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38214659
hg19214659
hg18214659
hg17214659
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535436
Samples1780862577_A
Known GenesZNF626
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv458512
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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