A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3738187



Internal ID19036468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9368964..9677037hg38UCSC Ensembl
Innerchr4:9370690..9678661hg19UCSC Ensembl
Innerchr4:8979788..9287759hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38308074
hg19307972
hg18307972
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006342
Supporting Variants
Samples
Known GenesDEFB131, LOC650293, MIR548I2, USP17L6P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3738187
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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