A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3525542



Internal ID22394920
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14322754, nssv14322756, nssv14322755
SamplesHG00512, NA19239, NA19240
Known GenesEDIL3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3525542
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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