A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543687



Internal ID15511637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55936290..55941339hg38UCSC Ensembl
Innerchr11:55703766..55708815hg19UCSC Ensembl
Innerchr11:55460342..55465391hg18UCSC Ensembl
Innerchr11:55460342..55465391hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg385050
hg195050
hg185050
hg175050
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468571
Supporting Variants
SamplesNINDS_125
Known GenesOR5I1
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)nssv543687
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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