A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546476



Internal ID16333885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:71611866..71773008hg38UCSC Ensembl
Innerchr1:72077549..72238691hg19UCSC Ensembl
Innerchr1:71850137..72011279hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38161143
hg19161143
hg18161143
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv309n54
Supporting Variantsnssv716170
Samples
Known GenesNEGR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546476
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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