A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535912



Internal ID15508748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63217271..63264557hg38UCSC Ensembl
Innerchr20:61848623..61895909hg19UCSC Ensembl
Innerchr20:61319068..61366354hg18UCSC Ensembl
Innerchr20:61319068..61366354hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3847287
hg1947287
hg1847287
hg1747287
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459073
Supporting Variants
SamplesHGDP00892
Known GenesBIRC7, FLJ16779, MIR3196, NKAIN4
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)nssv535912
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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