A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv692424



Internal ID15429076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81112070..81123916hg38UCSC Ensembl
Innerchr16:81145675..81157521hg19UCSC Ensembl
Innerchr16:79703176..79715022hg18UCSC Ensembl
Innerchr16:79703176..79715022hg17UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3811847
hg1911847
hg1811847
hg1711847
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520035
Supporting Variants
Samples
Known GenesPKD1L2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv692424
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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