A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4445438



Internal ID22111617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:69721062..69721062hg38UCSC Ensembl
chr13:70295194..70295194hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15759806
Samples
Known GenesKLHL1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SUBSINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4445438
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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