A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14324943



Internal ID22234693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131339247..131345718hg38UCSC Ensembl
chr5:130674940..130681411hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg386472
hg196472
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200501
Supporting Variants
SamplesHG00733
Known GenesCDC42SE2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14324943
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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