A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461552



Internal ID15521617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69622642..69681535hg38UCSC Ensembl
Innerchr4:70488360..70547253hg19UCSC Ensembl
Innerchr4:70522949..70581842hg18UCSC Ensembl
Innerchr4:70669120..70728013hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3858894
hg1958894
hg1858894
hg1758894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537931
SamplesHGDP00134
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)nsv461552
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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