A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595685



Internal ID16383094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:148445108..148456598hg38UCSC Ensembl
Innerchr4:149366260..149377750hg19UCSC Ensembl
Innerchr4:149585710..149597200hg18UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg3811491
hg1911491
hg1811491
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1009400
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595685
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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