A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460863



Internal ID15174242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:137964915..138022297hg38UCSC Ensembl
Innerchr3:137683757..137741139hg19UCSC Ensembl
Innerchr3:139166447..139223829hg18UCSC Ensembl
Innerchr3:139166455..139223837hg17UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg3857383
hg1957383
hg1857383
hg1757383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537355
SamplesHGDP01266
Known GenesCLDN18
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)nsv460863
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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