A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048717



Internal ID19137936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105544959..105733027hg38UCSC Ensembl
Innerchr14:106011296..106199364hg19UCSC Ensembl
Innerchr14:105082341..105270409hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38188069
hg19188069
hg18188069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3529824
Samples
Known GenesELK2AP, MIR8071-1, MIR8071-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048717
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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