A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537930



Internal ID15160179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69622642..69656037hg38UCSC Ensembl
Innerchr4:70488360..70521755hg19UCSC Ensembl
Innerchr4:70522949..70556344hg18UCSC Ensembl
Innerchr4:70669120..70702515hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3833396
hg1933396
hg1833396
hg1733396
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461551
Supporting Variants
SamplesHGDP00567
Known GenesUGT2A1, UGT2A2
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)nssv537930
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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