A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063386



Internal ID18805917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:57958821..58040306hg38UCSC Ensembl
Innerchr16:57992725..58074210hg19UCSC Ensembl
Innerchr16:56550226..56631711hg18UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg3881486
hg1981486
hg1881486
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3559355
Samples
Known GenesCNGB1, MMP15, TEPP, USB1, ZNF319
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063386
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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