A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018510



Internal ID19107727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:109391267..109491800hg38UCSC Ensembl
Innerchr8:110403496..110504029hg19UCSC Ensembl
Innerchr8:110472672..110573205hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38100534
hg19100534
hg18100534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3691274
Samples
Known GenesPKHD1L1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018510
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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