A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216333



Internal ID20783373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73768636..73868713hg38UCSC Ensembl
chr5:73064461..73164538hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38100078
hg19100078
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6398040
Supporting Variants
Samples
Known GenesARHGEF28
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216333
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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