A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462123



Internal ID15522188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:41229175..41234541hg38UCSC Ensembl
Innerchr5:41229277..41234643hg19UCSC Ensembl
Innerchr5:41265034..41270400hg18UCSC Ensembl
Innerchr5:41265034..41270400hg17UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg385367
hg195367
hg185367
hg175367
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538370
SamplesHGDP01223
Known GenesC6
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)nsv462123
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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