A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718764



Internal ID21745085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44121441..44121441hg38UCSC Ensembl
chr6:44089178..44089178hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238514
Samples
Known GenesMRPL14
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)nsv5718764
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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