A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572677



Internal ID16360086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55772968..55787063hg38UCSC Ensembl
Innerchr16:55806880..55820975hg19UCSC Ensembl
Innerchr16:54364381..54378476hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3814096
hg1914096
hg1814096
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5132n54
Supporting Variantsnssv857651, nssv857650, nssv857652
Samples
Known GenesCES1P1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572677
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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