A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521097



Internal ID15448390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:71967237..71968409hg38UCSC Ensembl
Innerchr16:72001136..72002308hg19UCSC Ensembl
Innerchr16:70558637..70559809hg18UCSC Ensembl
Innerchr16:70558637..70559809hg17UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg381173
hg191173
hg181173
hg171173
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv689754, nssv682109
Samples
Known GenesPKD1L3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521097
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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