A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535911



Internal ID15155522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63159264..63248817hg38UCSC Ensembl
Innerchr20:61790616..61880169hg19UCSC Ensembl
Innerchr20:61261061..61350614hg18UCSC Ensembl
Innerchr20:61261061..61350614hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3889554
hg1989554
hg1889554
hg1789554
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459072
Supporting Variants
Samples1780854231_A
Known GenesBIRC7, MIR124-3, MIR3196, NKAIN4, YTHDF1
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)nssv535911
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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