A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546824



Internal ID15987547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:93822968..93824497hg38UCSC Ensembl
Innerchr1:94288524..94290053hg19UCSC Ensembl
Innerchr1:94061112..94062641hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381530
hg191530
hg181530
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv368n54
Supporting Variantsnssv719325, nssv719324, nssv719328, nssv719327, nssv719326
Samples
Known GenesBCAR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546824
Frequency
Sample Size17421
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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