A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183206



Internal ID20750246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:49957101..49959500hg38UCSC Ensembl
chr15:50249298..50251697hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg382400
hg192400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6513534
Supporting Variants
Samples
Known GenesATP8B4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183206
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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