A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4447221



Internal ID22113398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37097623..37097623hg38UCSC Ensembl
chr22:37493663..37493663hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15761786
Samples
Known GenesTMPRSS6
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4447221
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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