A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718867



Internal ID21745188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135846070..135846070hg38UCSC Ensembl
chr2:136603640..136603640hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246005
Samples
Known GenesMCM6
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)nsv5718867
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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