A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6549381



Internal ID20922543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44146081..44146334hg38UCSC Ensembl
chr22:44541961..44542214hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18207544
Samples
Known GenesPARVB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6549381
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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