A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534521



Internal ID15165122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:554554..611142hg38UCSC Ensembl
Innerchr16:604554..661142hg19UCSC Ensembl
Innerchr16:544555..601143hg18UCSC Ensembl
Innerchr16:544555..601143hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3856589
hg1956589
hg1856589
hg1756589
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457304
Supporting Variants
SamplesNINDS_149
Known GenesC16orf11, CAPN15, NHLRC4, PIGQ, RAB40C
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)nssv534521
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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