A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467445



Internal ID15180824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:102501602..102627177hg38UCSC Ensembl
Innerchr10:104261359..104386934hg19UCSC Ensembl
Innerchr10:104251349..104376924hg18UCSC Ensembl
Innerchr10:104251349..104376924hg17UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38125576
hg19125576
hg18125576
hg17125576
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542736
SamplesHGDP00072
Known GenesACTR1A, SUFU
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)nsv467445
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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