A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6548196



Internal ID20921392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41236401..41241200hg38UCSC Ensembl
chr22:41632405..41637204hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg384800
hg194800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18074491
Samples
Known GenesCHADL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6548196
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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