A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716131



Internal ID21742452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44687635..44687635hg38UCSC Ensembl
chr17:42765003..42765003hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252256
Samples
Known GenesCCDC43
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5716131
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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