A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4438509



Internal ID22104689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73289719..73289719hg38UCSC Ensembl
chr17:71285858..71285858hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15767291
Samples
Known GenesCDC42EP4
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4438509
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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