A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717871



Internal ID21744192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43826594..43826594hg38UCSC Ensembl
chr2:44053733..44053733hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251024, nssv17248776
Samples
Known GenesABCG5
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)nsv5717871
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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