A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534750



Internal ID15508335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84387654..84501190hg38UCSC Ensembl
Innerchr16:84421260..84534796hg19UCSC Ensembl
Innerchr16:82978761..83092297hg18UCSC Ensembl
Innerchr16:82978761..83092297hg17UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38113537
hg19113537
hg18113537
hg17113537
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457600
Supporting Variants
SamplesHGDP00805
Known GenesATP2C2, TLDC1
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)nssv534750
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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