A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546486



Internal ID16333895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72189047..72263459hg38UCSC Ensembl
Innerchr1:72654730..72729142hg19UCSC Ensembl
Innerchr1:72427318..72501730hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3874413
hg1974413
hg1874413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv312n54
Supporting Variantsnssv716179
Samples
Known GenesNEGR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546486
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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