A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692728



Internal ID21719049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148565188..148565188hg38UCSC Ensembl
chr5:147944751..147944751hg19UCSC Ensembl
Cytoband5q32
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 Variantsnssv17228089, nssv17179306
Samples
Known GenesHTR4
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)nsv5692728
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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