A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546823



Internal ID15987546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:93822968..93824384hg38UCSC Ensembl
Innerchr1:94288524..94289940hg19UCSC Ensembl
Innerchr1:94061112..94062528hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381417
hg191417
hg181417
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv368n54
Supporting Variantsnssv719323, nssv719320, nssv719319, nssv719310, nssv719304, nssv719309, nssv719317, nssv719305, nssv719322, nssv719307, nssv719314, nssv719312, nssv719318, nssv719308, nssv719311, nssv719303, nssv719306, nssv719321, nssv719313, nssv719316, nssv719315
Samples
Known GenesBCAR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546823
Frequency
Sample Size17421
Observed Gain14
Observed Loss7
Observed Complex0
Frequencyn/a


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