A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998504



Internal ID19158040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9368964..9630812hg38UCSC Ensembl
Innerchr4:9370690..9632436hg19UCSC Ensembl
Innerchr4:8979788..9241534hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38261849
hg19261747
hg18261747
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5103n100
Supporting Variantsnssv3613265
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)nsv998504
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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