A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546843



Internal ID15987566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:93823564..93825527hg38UCSC Ensembl
Innerchr1:94289120..94291083hg19UCSC Ensembl
Innerchr1:94061708..94063671hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381964
hg191964
hg181964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv373n54
Supporting Variantsnssv719603
Samples
Known GenesBCAR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546843
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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