A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695291



Internal ID21721612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:37830228..37830228hg38UCSC Ensembl
chr10:38119156..38119156hg19UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17187996, nssv17224572
Samples
Known GenesZNF248
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)nsv5695291
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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