A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537120



Internal ID15163373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:62664449..62675160hg38UCSC Ensembl
Innerchr3:62650124..62660835hg19UCSC Ensembl
Innerchr3:62625164..62635875hg18UCSC Ensembl
Innerchr3:62625164..62635875hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3810712
hg1910712
hg1810712
hg1710712
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460579
Supporting Variants
SamplesHGDP01182
Known GenesCADPS
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)nssv537120
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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