A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14243484



Internal ID21306061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6241056..6377885hg38UCSC Ensembl
Outerchr4:6240474..6382756hg38UCSC Ensembl
Innerchr4:6242783..6379612hg19UCSC Ensembl
Outerchr4:6242201..6384483hg19UCSC Ensembl
Innerchr4:6293684..6430513hg18UCSC Ensembl
Outerchr4:6293102..6435384hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38142283
hg19142283
hg18142283
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170304
Supporting Variants
SamplesNGO_25
Known GenesPPP2R2C, WFS1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14243484
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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