A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467374



Internal ID15180753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:71559814..71575285hg38UCSC Ensembl
Innerchr10:73319571..73335042hg19UCSC Ensembl
Innerchr10:72989577..73005048hg18UCSC Ensembl
Innerchr10:72989577..73005048hg17UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3815472
hg1915472
hg1815472
hg1715472
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542688
SamplesHGDP00994
Known GenesCDH23
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)nsv467374
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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