A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6547542



Internal ID20920743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29298382..29305830hg38UCSC Ensembl
chr22:29694372..29701820hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg387449
hg197449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204971
Samples
Known GenesEWSR1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6547542
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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