A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462600



Internal ID15522665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:246178..311938hg38UCSC Ensembl
Innerchr6:246178..311938hg19UCSC Ensembl
Innerchr6:191178..256938hg18UCSC Ensembl
Innerchr6:191178..256938hg17UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3865761
hg1965761
hg1865761
hg1765761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538720
SamplesHGDP00288
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)nsv462600
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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