A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534722



Internal ID15503777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:80791309..80824246hg38UCSC Ensembl
Innerchr16:80825206..80858143hg19UCSC Ensembl
Innerchr16:79382707..79415644hg18UCSC Ensembl
Innerchr16:79382707..79415644hg17UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3832938
hg1932938
hg1832938
hg1732938
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457560
Supporting Variants
Samples1780862415_A
Known GenesCDYL2
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)nssv534722
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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