A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14322754



Internal ID22123497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:84054868..84055453hg38UCSC Ensembl
chr5:83350687..83351272hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38586
hg19586
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525542
Supporting Variants
SamplesHG00512
Known GenesEDIL3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14322754
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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