A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17207334



Internal ID21654843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42452998..42452998hg38UCSC Ensembl
chr1:42918669..42918669hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5681338
Supporting Variants
Samples
Known GenesZMYND12
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)nssv17207334
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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