A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572645



Internal ID16360054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55762760..55781103hg38UCSC Ensembl
Innerchr16:55796672..55815015hg19UCSC Ensembl
Innerchr16:54354173..54372516hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3818344
hg1918344
hg1818344
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5127n54
Supporting Variantsnssv857514, nssv857513, nssv857515
Samples
Known GenesCES1P1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572645
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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