A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6547981



Internal ID20921180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41588454..41599846hg38UCSC Ensembl
chr22:41984458..41995850hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3811393
hg1911393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206826
Samples
Known GenesDESI1, PMM1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6547981
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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