A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461147



Internal ID15174526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:804723..871439hg38UCSC Ensembl
Innerchr4:798511..865227hg19UCSC Ensembl
Innerchr4:788511..855227hg18UCSC Ensembl
Innerchr4:788341..855057hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3866717
hg1966717
hg1866717
hg1766717
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537584
Samples1780862347_A
Known GenesCPLX1, GAK
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)nsv461147
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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