A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461549



Internal ID15174928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69622642..69650953hg38UCSC Ensembl
Innerchr4:70488360..70516671hg19UCSC Ensembl
Innerchr4:70522949..70551260hg18UCSC Ensembl
Innerchr4:70669120..70697431hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3828312
hg1928312
hg1828312
hg1728312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv659n27
Supporting Variantsnssv537928
SamplesHGDP00098
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)nsv461549
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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