A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520245



Internal ID15100852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39353536..39359462hg38UCSC Ensembl
Innerchr19:39844176..39850102hg19UCSC Ensembl
Innerchr19:44536016..44541942hg18UCSC Ensembl
Innerchr19:44536016..44541942hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385927
hg195927
hg185927
hg175927
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv202n21
Supporting Variantsnssv697305
Samples
Known GenesSAMD4B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520245
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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