A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467456



Internal ID15527521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:111149347..111182022hg38UCSC Ensembl
Innerchr10:112909105..112941780hg19UCSC Ensembl
Innerchr10:112899095..112931770hg18UCSC Ensembl
Innerchr10:112899095..112931770hg17UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg3832676
hg1932676
hg1832676
hg1732676
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542745
SamplesHGDP01288
Known Genes
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)nsv467456
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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