A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572944



Internal ID16013667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70160988..70173267hg38UCSC Ensembl
Innerchr16:70194891..70207170hg19UCSC Ensembl
Innerchr16:68752392..68764671hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3812280
hg1912280
hg1812280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5185n54
Supporting Variantsnssv859118
Samples
Known GenesPDPR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572944
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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