A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542978



Internal ID15508440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:36602637..36876823hg38UCSC Ensembl
Innerchr11:36624187..36898373hg19UCSC Ensembl
Innerchr11:36580763..36854949hg18UCSC Ensembl
Innerchr11:36580763..36854949hg17UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38274187
hg19274187
hg18274187
hg17274187
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467792
Supporting Variants
SamplesHGDP00828
Known GenesC11orf74
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)nssv542978
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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