A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056843



Internal ID19146062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81120843..81139057hg38UCSC Ensembl
Innerchr16:81154448..81172662hg19UCSC Ensembl
Innerchr16:79711949..79730163hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3818215
hg1918215
hg1818215
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3719082
Samples
Known GenesPKD1L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056843
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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