A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704324



Internal ID15094290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:82687819..82690487hg38UCSC Ensembl
Innerchr16:82721424..82724092hg19UCSC Ensembl
Innerchr16:81278925..81281593hg18UCSC Ensembl
Innerchr16:81278925..81281593hg17UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg382669
hg192669
hg182669
hg172669
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527828
Supporting Variants
Samples
Known GenesCDH13, MIR8058
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704324
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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