A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325876



Internal ID22261114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143003996..143004053hg38UCSC Ensembl
chr5:142383561..142383618hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525049
Supporting Variants
SamplesNA19238
Known GenesARHGAP26
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14325876
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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