A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6378145



Internal ID21035698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1838706..1965069hg38UCSC Ensembl
chr5:1838820..1965183hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38126364
hg19126364
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18215194
Samples
Known GenesIRX4, LOC101929034
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6378145
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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