A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546949



Internal ID16334358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103525705..103526545hg38UCSC Ensembl
Innerchr1:104068327..104069167hg19UCSC Ensembl
Innerchr1:103840915..103841755hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38841
hg19841
hg18841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv391n54
Supporting Variantsnssv719723
Samples
Known GenesRNPC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546949
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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