A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052383



Internal ID19141602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:45284734..45364938hg38UCSC Ensembl
Innerchr14:45753937..45834141hg19UCSC Ensembl
Innerchr14:44823687..44903891hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3880205
hg1980205
hg1880205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3530444, nssv3530443
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052383
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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