A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055048



Internal ID19144267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:94178251..94266428hg38UCSC Ensembl
Innerchr14:94644588..94732765hg19UCSC Ensembl
Innerchr14:93714341..93802518hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3888178
hg1988178
hg1888178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1958n100
Supporting Variantsnssv3532603
Samples
Known GenesPPP4R4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055048
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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