A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546221



Internal ID16333630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:51989600..51990298hg38UCSC Ensembl
Innerchr1:52455272..52455970hg19UCSC Ensembl
Innerchr1:52227860..52228558hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv268n54
Supporting Variantsnssv713031, nssv713030
Samples
Known GenesRAB3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546221
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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