A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572687



Internal ID16013410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55798655..55827882hg38UCSC Ensembl
Innerchr16:55832567..55861794hg19UCSC Ensembl
Innerchr16:54390068..54419295hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3829228
hg1929228
hg1829228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv857716, nssv857717
Samples
Known GenesCES1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572687
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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