A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593501



Internal ID16380910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6452285..6469519hg38UCSC Ensembl
Innerchr4:6454012..6471246hg19UCSC Ensembl
Innerchr4:6504913..6522147hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3817235
hg1917235
hg1817235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152596
SamplesHGDP01007
Known GenesPPP2R2C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593501
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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