A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4438339



Internal ID22104518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58726389..58726389hg38UCSC Ensembl
chr17:56803750..56803750hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15759697
Samples
Known GenesRAD51C
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4438339
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer