A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546830



Internal ID15987553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:93822968..93825925hg38UCSC Ensembl
Innerchr1:94288524..94291481hg19UCSC Ensembl
Innerchr1:94061112..94064069hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg382958
hg192958
hg182958
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719583
Samples
Known GenesBCAR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546830
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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