A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543855



Internal ID15505123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:83256921..83261055hg38UCSC Ensembl
Innerchr11:82967963..82972097hg19UCSC Ensembl
Innerchr11:82645611..82649745hg18UCSC Ensembl
Innerchr11:82645611..82649745hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg384135
hg194135
hg184135
hg174135
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468764
Supporting Variants
SamplesHGDP00052
Known GenesCCDC90B
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)nssv543855
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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