A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043539



Internal ID18786070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20888085..20948863hg38UCSC Ensembl
Innerchr14:21356244..21417022hg19UCSC Ensembl
Innerchr14:20426084..20486862hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3860779
hg1960779
hg1860779
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1802n100
Supporting Variantsnssv3530859, nssv3530860
Samples
Known GenesECRP, RNASE3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043539
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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