A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17541948



Internal ID21866303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78813976..78816047hg38UCSC Ensembl
chr5:78109799..78111870hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382072
hg192072
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6013619
Supporting Variants
Samples
Known GenesARSB
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17541948
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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