A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700739



Internal ID21727060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:156655799..156655799hg38UCSC Ensembl
chr7:156448493..156448493hg19UCSC Ensembl
Cytoband7q36.3
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 Variantsnssv17183262, nssv17225370
Samples
Known GenesRNF32
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)nsv5700739
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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