A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049819



Internal ID18792350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:72911687..73164900hg38UCSC Ensembl
Innerchr14:73378395..73631608hg19UCSC Ensembl
Innerchr14:72448148..72701361hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38253214
hg19253214
hg18253214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531131
Samples
Known GenesDCAF4, PSEN1, RBM25, ZFYVE1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049819
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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