A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149318



Internal ID15880250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81170476..81261288hg38UCSC Ensembl
Innerchr16:81204081..81294893hg19UCSC Ensembl
Innerchr16:79761582..79852394hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3890813
hg1990813
hg1890813
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv573354
Supporting Variants
SamplesNINDS_180
Known GenesBCMO1, PKD1L2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149318
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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