A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705384



Internal ID15442036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81147818..81148552hg38UCSC Ensembl
Innerchr16:81181423..81182157hg19UCSC Ensembl
Innerchr16:79738924..79739658hg18UCSC Ensembl
Innerchr16:79738924..79739658hg17UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38735
hg19735
hg18735
hg17735
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)nssv705384
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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