A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596375



Internal ID16383784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:185519679..185522869hg38UCSC Ensembl
Innerchr4:186440833..186444023hg19UCSC Ensembl
Innerchr4:186677827..186681017hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg383191
hg193191
hg183191
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1017985, nssv1017984
Samples
Known GenesPDLIM3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596375
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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