A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052323



Internal ID19141542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:48772389..49048066hg38UCSC Ensembl
Innerchr14:49241592..49514784hg19UCSC Ensembl
Innerchr14:48311342..48584534hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38275678
hg19273193
hg18273193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531012
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)nsv1052323
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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