A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461165



Internal ID15174544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3281695..3340410hg38UCSC Ensembl
Innerchr4:3283422..3342137hg19UCSC Ensembl
Innerchr4:3253220..3311935hg18UCSC Ensembl
Innerchr4:3320391..3379106hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3858716
hg1958716
hg1858716
hg1758716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537596
Samples1780854479_A
Known GenesRGS12
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)nsv461165
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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