A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14294327



Internal ID22256936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143526104..143526429hg38UCSC Ensembl
chr2:144283673..144283998hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526834
Supporting Variants
SamplesNA19238
Known GenesARHGAP15
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14294327
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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