A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4442005



Internal ID22108187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31591865..31592191hg38UCSC Ensembl
chr22:31987851..31988177hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15762125
Samples
Known GenesSFI1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4442005
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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