A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053618



Internal ID18796149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100120420..100198944hg38UCSC Ensembl
Innerchr14:100586757..100665281hg19UCSC Ensembl
Innerchr14:99656510..99735034hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3878525
hg1978525
hg1878525
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1969n100
Supporting Variantsnssv3711390
Samples
Known GenesDEGS2, EVL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053618
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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