A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18219339



Internal ID20786379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23296973..23543937hg38UCSC Ensembl
chr8:23154486..23401450hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38246965
hg19246965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6429459
Supporting Variants
Samples
Known GenesENTPD4, LOC100507156, LOXL2, SLC25A37
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18219339
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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