A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546848



Internal ID15987571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:93824307..93825696hg38UCSC Ensembl
Innerchr1:94289863..94291252hg19UCSC Ensembl
Innerchr1:94062451..94063840hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381390
hg191390
hg181390
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv374n54
Supporting Variantsnssv719612, nssv719611
Samples
Known GenesBCAR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546848
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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