A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203556



Internal ID22352544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:78971300..78984777hg38UCSC Ensembl
Outerchr5:78267123..78280600hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3813478
hg1913478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273674
SamplesHG00731
Known GenesARSB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203556
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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