A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3738191



Internal ID19036472
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 StatusS
Merged Variantsnsv997355
Supporting Variants
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)nssv3738191
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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