A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983203



Internal ID18618397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5248967..5255846hg38UCSC Ensembl
Innerchr11:5270197..5277076hg19UCSC Ensembl
Innerchr11:5226773..5233652hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg386880
hg196880
hg186880
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2757985
SamplesHGDP00927
Known GenesHBG1, HBG2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983203
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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