A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557665



Internal ID15998388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:17944961..18105650hg38UCSC Ensembl
Innerchr12:18097895..18258584hg19UCSC Ensembl
Innerchr12:17989162..18149851hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38160690
hg19160690
hg18160690
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789455
Samples
Known GenesRERGL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557665
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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