A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6412067



Internal ID21069620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180980601..181076900hg38UCSC Ensembl
chr5:180407601..180503900hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3896300
hg1996300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6032n223
Supporting Variantsnssv18215172
Samples
Known GenesBTNL3, BTNL9, MIR8089
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6412067
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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