A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050378



Internal ID19139597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:64219825..64236294hg38UCSC Ensembl
Innerchr14:64686543..64703012hg19UCSC Ensembl
Innerchr14:63756296..63772765hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3816470
hg1916470
hg1816470
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531079
Samples
Known GenesESR2, MIR548AZ, SYNE2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050378
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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