A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462602



Internal ID15175981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:256281..381217hg38UCSC Ensembl
Innerchr6:256281..381217hg19UCSC Ensembl
Innerchr6:201281..326217hg18UCSC Ensembl
Innerchr6:201281..326217hg17UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38124937
hg19124937
hg18124937
hg17124937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv736n27
Supporting Variantsnssv538722
SamplesHGDP00330
Known GenesDUSP22
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)nsv462602
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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