A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212378



Internal ID20779418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:75786850..75915691hg38UCSC Ensembl
chr4:76708003..76836844hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38128842
hg19128842
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6391628
Supporting Variants
Samples
Known GenesNAAA, PPEF2, USO1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212378
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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