A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467471



Internal ID15527536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:124574924..124609616hg38UCSC Ensembl
Innerchr10:126263493..126298185hg19UCSC Ensembl
Innerchr10:126253483..126288175hg18UCSC Ensembl
Innerchr10:126253483..126288175hg17UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3834693
hg1934693
hg1834693
hg1734693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542759
SamplesHGDP01100
Known GenesLHPP
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)nsv467471
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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