A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728710



Internal ID21755031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42140500..42140500hg38UCSC Ensembl
chr17:40292518..40292518hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240439
Samples
Known GenesRAB5C
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)nsv5728710
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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