A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572644



Internal ID16360053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55762760..55779800hg38UCSC Ensembl
Innerchr16:55796672..55813712hg19UCSC Ensembl
Innerchr16:54354173..54371213hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3817041
hg1917041
hg1817041
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5128n54
Supporting Variantsnssv857512, nssv857511
Samples
Known GenesCES1P1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572644
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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