A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534737



Internal ID15155465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83100852..83122118hg38UCSC Ensembl
Innerchr16:83134457..83155723hg19UCSC Ensembl
Innerchr16:81691958..81713224hg18UCSC Ensembl
Innerchr16:81691958..81713224hg17UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3821267
hg1921267
hg1821267
hg1721267
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457583
Supporting Variants
Samples1780854198_A
Known GenesCDH13
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)nssv534737
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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