A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213429



Internal ID20780469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37262788..37542299hg38UCSC Ensembl
chr5:37262890..37542401hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38279512
hg19279512
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6378632
Supporting Variants
Samples
Known GenesNUP155, WDR70
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213429
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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