A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701432



Internal ID21727753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51228505..51228505hg38UCSC Ensembl
chr17:49305866..49305866hg19UCSC Ensembl
Cytoband17q21.33
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 Variantsnssv17200600
Samples
Known GenesMBTD1
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)nsv5701432
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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