A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712983



Internal ID15660253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:51989444..51990298hg38UCSC Ensembl
Innerchr1:52455116..52455970hg19UCSC Ensembl
Innerchr1:52227704..52228558hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38855
hg19855
hg18855
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546206
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)nssv712983
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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