A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016129



Internal ID19105347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150789498..150839030hg38UCSC Ensembl
Innerchr5:150169060..150218592hg19UCSC Ensembl
Innerchr5:150149253..150198785hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3849533
hg1949533
hg1849533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5818n100
Supporting Variantsnssv3648170
Samples
Known GenesSMIM3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016129
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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