A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462518



Internal ID15522583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:170583376..170604309hg38UCSC Ensembl
Innerchr5:170010380..170031313hg19UCSC Ensembl
Innerchr5:169942958..169963891hg18UCSC Ensembl
Innerchr5:169942958..169963891hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3820934
hg1920934
hg1820934
hg1720934
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538663
SamplesHGDP01157
Known GenesKCNIP1
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)nsv462518
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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