A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546833



Internal ID15987556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:93823114..93824497hg38UCSC Ensembl
Innerchr1:94288670..94290053hg19UCSC Ensembl
Innerchr1:94061258..94062641hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381384
hg191384
hg181384
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv368n54
Supporting Variantsnssv719586, nssv719587, nssv719588, nssv719589
Samples
Known GenesBCAR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546833
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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