A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17187995



Internal ID21635504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:37821228..37821228hg38UCSC Ensembl
chr10:38110156..38110156hg19UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5695358
Supporting Variants
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)nssv17187995
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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