A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14297387



Internal ID22295710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221424954..221425159hg38UCSC Ensembl
chr2:222289674..222289879hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525554
Supporting Variants
SamplesNA19240
Known GenesEPHA4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14297387
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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