A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716268



Internal ID21742589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39553502..39553502hg38UCSC Ensembl
chr4:39555122..39555122hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241643, nssv17240124
Samples
Known GenesMIR1273H, SMIM14, UGDH-AS1
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)nsv5716268
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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