A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6554971



Internal ID20928060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48886661..49030943hg38UCSC Ensembl
chr22:49282473..49426755hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38144283
hg19144283
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205680
Samples
Known GenesLOC100128946
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6554971
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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