A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6552249



Internal ID20925377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33707612..33756938hg38UCSC Ensembl
chr22:34103598..34152925hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3849327
hg1949328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18073633
Samples
Known GenesLARGE, LARGE-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6552249
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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