A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720895



Internal ID21747216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67613575..67613575hg38UCSC Ensembl
chr17:65609691..65609691hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38799
hg19799
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235561
Samples
Known GenesPITPNC1
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)nsv5720895
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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