A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595385



Internal ID16382794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:126462318..126530651hg38UCSC Ensembl
Innerchr4:127383473..127451806hg19UCSC Ensembl
Innerchr4:127602923..127671256hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3868334
hg1968334
hg1868334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1006238
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595385
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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