A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17206329



Internal ID21653838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215646395..215646395hg38UCSC Ensembl
chr1:215819737..215819737hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5693635
Supporting Variants
Samples
Known GenesUSH2A
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)nssv17206329
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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