A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533566



Internal ID15510462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:30917220..30948610hg38UCSC Ensembl
Innerchr14:31386426..31417816hg19UCSC Ensembl
Innerchr14:30456177..30487567hg18UCSC Ensembl
Innerchr14:30456177..30487567hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3831391
hg1931391
hg1831391
hg1731391
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456197
Supporting Variants
SamplesHGDP01249
Known GenesSTRN3
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)nssv533566
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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