A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534522



Internal ID15511609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:605686..670986hg38UCSC Ensembl
Innerchr16:655686..720986hg19UCSC Ensembl
Innerchr16:595687..660987hg18UCSC Ensembl
Innerchr16:595687..660987hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3865301
hg1965301
hg1865301
hg1765301
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457308
Supporting Variants
SamplesNINDS_119
Known GenesC16orf13, FAM195A, RAB40C, RHOT2, WDR90, WFIKKN1
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)nssv534522
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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