A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058852



Internal ID18801383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:50744296..50793690hg38UCSC Ensembl
Innerchr16:50778207..50827601hg19UCSC Ensembl
Innerchr16:49335708..49385102hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3849395
hg1949395
hg1849395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2977n100
Supporting Variantsnssv3559255
Samples
Known GenesCYLD
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058852
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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