A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6397789



Internal ID21055342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116023442..116052240hg38UCSC Ensembl
chr5:115359139..115387937hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3828799
hg1928799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18125659
Samples
Known GenesAQPEP, ARL14EPL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6397789
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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