A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572676



Internal ID16360085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55772968..55785588hg38UCSC Ensembl
Innerchr16:55806880..55819500hg19UCSC Ensembl
Innerchr16:54364381..54377001hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3812621
hg1912621
hg1812621
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5132n54
Supporting Variantsnssv857647, nssv857649, nssv857648
Samples
Known GenesCES1P1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572676
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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