A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6517392



Internal ID20890753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5484201..5486700hg38UCSC Ensembl
chr18:5484200..5486699hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18042248
Samples
Known GenesEPB41L3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6517392
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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