A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534768



Internal ID15162013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89207475..89319153hg38UCSC Ensembl
Innerchr16:89273883..89385561hg19UCSC Ensembl
Innerchr16:87801384..87913062hg18UCSC Ensembl
Innerchr16:87801384..87913062hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38111679
hg19111679
hg18111679
hg17111679
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457622
Supporting Variants
SamplesHGDP00885
Known GenesANKRD11, ZNF778
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)nssv534768
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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