A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518636



Internal ID15445929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:94184566..94221108hg38UCSC Ensembl
Innerchr8:95196794..95233336hg19UCSC Ensembl
Innerchr8:95265970..95302512hg18UCSC Ensembl
Innerchr8:95265970..95302512hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3836543
hg1936543
hg1836543
hg1736543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv465n21
Supporting Variantsnssv696085
Samples
Known GenesCDH17
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518636
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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