A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546851



Internal ID15987574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:94451093..94475820hg38UCSC Ensembl
Innerchr1:94916649..94941376hg19UCSC Ensembl
Innerchr1:94689237..94713964hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3824728
hg1924728
hg1824728
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719615
Samples
Known GenesABCD3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546851
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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