A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6414452



Internal ID21072005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119180217..119255851hg38UCSC Ensembl
chr5:118515912..118591546hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3875635
hg1975635
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18212505
Samples
Known GenesDMXL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6414452
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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