A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997355



Internal ID19156893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9380092..9613455hg38UCSC Ensembl
Innerchr4:9381818..9615079hg19UCSC Ensembl
Innerchr4:8990916..9224177hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38233364
hg19233262
hg18233262
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5103n100
Supporting Variantsnssv3738191
Samples
Known GenesDEFB131, LOC650293, MIR548I2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997355
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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