A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461187



Internal ID15174566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6254902..6301627hg38UCSC Ensembl
Innerchr4:6256629..6303354hg19UCSC Ensembl
Innerchr4:6307530..6354255hg18UCSC Ensembl
Innerchr4:6374701..6421426hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3846726
hg1946726
hg1846726
hg1746726
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv640n27
Supporting Variantsnssv537614
SamplesHGDP01190
Known GenesWFS1
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)nsv461187
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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