A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6413117



Internal ID21070670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78982201..78985700hg38UCSC Ensembl
chr5:78278024..78281523hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214173
Samples
Known GenesARSB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6413117
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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