A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039230



Internal ID19128449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:69455835..69505285hg38UCSC Ensembl
Innerchr14:69922552..69972002hg19UCSC Ensembl
Innerchr14:68992305..69041755hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3849451
hg1949451
hg1849451
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1930n100
Supporting Variantsnssv3713519
Samples
Known GenesPLEKHD1, SLC39A9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039230
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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