A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049568



Internal ID19138787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:42503822..42644771hg38UCSC Ensembl
Innerchr14:42973025..43113974hg19UCSC Ensembl
Innerchr14:42042775..42183724hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38140950
hg19140950
hg18140950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1888n100
Supporting Variantsnssv3712302, nssv3530213, nssv3712301
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)nsv1049568
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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