A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546482



Internal ID16333891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72089806..72252060hg38UCSC Ensembl
Innerchr1:72555489..72717743hg19UCSC Ensembl
Innerchr1:72328077..72490331hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38162255
hg19162255
hg18162255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv310n54
Supporting Variantsnssv716176
Samples
Known GenesNEGR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546482
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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