A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685912



Internal ID21712233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173074589..173074589hg38UCSC Ensembl
chr4:173995740..173995740hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17175784, nssv17212777
Samples
Known Genes
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)nsv5685912
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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