A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv680882



Internal ID15417534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81147818..81230992hg38UCSC Ensembl
Innerchr16:81181423..81264597hg19UCSC Ensembl
Innerchr16:79738924..79822098hg18UCSC Ensembl
Innerchr16:79738924..79822098hg17UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3883175
hg1983175
hg1883175
hg1783175
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521055
Supporting Variants
Samples
Known GenesPKD1L2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv680882
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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