A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049719



Internal ID19138938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:94170777..94257985hg38UCSC Ensembl
Innerchr14:94637114..94724322hg19UCSC Ensembl
Innerchr14:93706867..93794075hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3887209
hg1987209
hg1887209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1958n100
Supporting Variantsnssv3532601
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)nsv1049719
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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