A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012598



Internal ID19101815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9368964..9519200hg38UCSC Ensembl
Innerchr4:9370690..9520845hg19UCSC Ensembl
Innerchr4:8979788..9129943hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38150237
hg19150156
hg18150156
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5102n100
Supporting Variantsnssv3613263, nssv3613264
Samples
Known GenesDEFB131, LOC650293, USP17L6P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012598
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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