A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466482



Internal ID15179861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:110379729..110713825hg38UCSC Ensembl
Innerchr9:113142009..113476105hg19UCSC Ensembl
Innerchr9:112181830..112515926hg18UCSC Ensembl
Innerchr9:110221564..110555660hg17UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38334097
hg19334097
hg18334097
hg17334097
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542012
SamplesHGDP00199
Known GenesMUSK, SVEP1
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)nsv466482
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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