A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525398



Internal ID15106005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:79114741..79117681hg38UCSC Ensembl
Innerchr5:78410564..78413504hg19UCSC Ensembl
Innerchr5:78446320..78449260hg18UCSC Ensembl
Innerchr5:78446320..78449260hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382941
hg192941
hg182941
hg172941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701521
Samples
Known GenesBHMT
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525398
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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