A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011425



Internal ID19100642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9435268..9713481hg38UCSC Ensembl
Innerchr4:9436994..9715105hg19UCSC Ensembl
Innerchr4:9046092..9324203hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38278214
hg19278112
hg18278112
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5104n100
Supporting Variantsnssv3738200
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)nsv1011425
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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