A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6412500



Internal ID21070053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123400501..123402900hg38UCSC Ensembl
chr5:122736195..122738594hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg382400
hg192400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213155
Samples
Known GenesCEP120
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6412500
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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