A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv990219



Internal ID16284175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6775053..6783318hg38UCSC Ensembl
Innerchr4:6776780..6785045hg19UCSC Ensembl
Innerchr4:6827681..6835946hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg388266
hg198266
hg188266
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv593526
Supporting Variants
Samples
Known GenesKIAA0232
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv990219
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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