A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125659



Internal ID20692699
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 StatusS
Merged Variantsnsv6397789
Supporting Variants
Samples
Known GenesAQPEP, ARL14EPL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125659
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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