A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679944



Internal ID21706265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214771943..214771943hg38UCSC Ensembl
chr2:215636667..215636667hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17216765, nssv17208723
Samples
Known GenesBARD1
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)nsv5679944
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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