A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4007510



Internal ID22069141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:240682274..241005235hg38UCSC Ensembl
Outerchr1:240679137..241007677hg38UCSC Ensembl
Innerchr1:240845574..241168535hg19UCSC Ensembl
Outerchr1:240842437..241170977hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38328541
hg19328541
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154940
Supporting Variants
Samples
Known GenesRGS7
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4007510
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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