A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703655



Internal ID21729976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42597608..42597608hg38UCSC Ensembl
chr17:40749626..40749626hg19UCSC Ensembl
Cytoband17q21.2
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 Variantsnssv17230263
Samples
Known GenesFAM134C
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)nsv5703655
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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