A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546839



Internal ID15987562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:93823270..93824668hg38UCSC Ensembl
Innerchr1:94288826..94290224hg19UCSC Ensembl
Innerchr1:94061414..94062812hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv371n54
Supporting Variantsnssv719598
Samples
Known GenesBCAR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546839
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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