A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467490



Internal ID15527555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:132256106..132291357hg38UCSC Ensembl
Innerchr10:134069610..134104861hg19UCSC Ensembl
Innerchr10:133919600..133954851hg18UCSC Ensembl
Innerchr10:133919600..133954851hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3835252
hg1935252
hg1835252
hg1735252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542771
SamplesHGDP00543
Known GenesSTK32C
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)nsv467490
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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