A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546207



Internal ID16333616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:51989444..51992144hg38UCSC Ensembl
Innerchr1:52455116..52457816hg19UCSC Ensembl
Innerchr1:52227704..52230404hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382701
hg192701
hg182701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv269n54
Supporting Variantsnssv712988
Samples
Known GenesRAB3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546207
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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