A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044390



Internal ID18786921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:60109151..60168783hg38UCSC Ensembl
Innerchr14:60575869..60635501hg19UCSC Ensembl
Innerchr14:59645622..59705254hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3859633
hg1959633
hg1859633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531045
Samples
Known GenesDHRS7, PCNXL4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044390
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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