A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6400279



Internal ID21057832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78933378..78941627hg38UCSC Ensembl
chr5:78229201..78237450hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg388250
hg198250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18133391
Samples
Known GenesARSB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6400279
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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