A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149633



Internal ID15874465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22662534..22766456hg38UCSC Ensembl
Innerchr16:22673855..22777777hg19UCSC Ensembl
Innerchr16:22581356..22685278hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38103923
hg19103923
hg18103923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv571658
Supporting Variants
SamplesHGDP00543
Known GenesMIR548AA2, MIR548D2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149633
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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