A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461494



Internal ID15521559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53661031..53695872hg38UCSC Ensembl
Innerchr1:54126704..54161545hg19UCSC Ensembl
Innerchr1:53899292..53934133hg18UCSC Ensembl
Innerchr1:53838725..53873566hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3834842
hg1934842
hg1834842
hg1734842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537879
SamplesHGDP01290
Known GenesGLIS1
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)nsv461494
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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