A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546217



Internal ID16333626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:51989548..51991114hg38UCSC Ensembl
Innerchr1:52455220..52456786hg19UCSC Ensembl
Innerchr1:52227808..52229374hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381567
hg191567
hg181567
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv271n54
Supporting Variantsnssv713024, nssv713025, nssv713026
Samples
Known GenesRAB3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546217
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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