A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701940



Internal ID21728261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:95068726..95068726hg38UCSC Ensembl
chr13:95720980..95720980hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194626, nssv17220814
Samples
Known GenesABCC4
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5701940
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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