A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6552685



Internal ID20925811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39872301..39878700hg38UCSC Ensembl
chr22:40268305..40274704hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg386400
hg196400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206792
Samples
Known GenesENTHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6552685
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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