A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17208200



Internal ID21655709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105600793..105600793hg38UCSC Ensembl
chr2:106217250..106217250hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5680925
Supporting Variants
Samples
Known GenesLOC285000
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)nssv17208200
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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