A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv713017



Internal ID15660287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:51989548..51990298hg38UCSC Ensembl
Innerchr1:52455220..52455970hg19UCSC Ensembl
Innerchr1:52227808..52228558hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38751
hg19751
hg18751
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546216
Supporting Variants
Samples
Known GenesRAB3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv713017
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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