A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462640



Internal ID15176019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:13426307..13519202hg38UCSC Ensembl
Innerchr6:13426539..13519434hg19UCSC Ensembl
Innerchr6:13534518..13627413hg18UCSC Ensembl
Innerchr6:13534518..13627413hg17UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg3892896
hg1992896
hg1892896
hg1792896
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538747
SamplesHGDP01302
Known GenesGFOD1
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)nsv462640
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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