A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14287637



Internal ID22119061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10552671..10552800hg38UCSC Ensembl
chr2:10692797..10692926hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526755
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14287637
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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