A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038622



Internal ID19127841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:38954358..39134831hg38UCSC Ensembl
Innerchr14:39423562..39604035hg19UCSC Ensembl
Innerchr14:38493313..38673786hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38180474
hg19180474
hg18180474
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3530126
Samples
Known GenesGEMIN2, SEC23A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038622
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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