A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17227995



Internal ID21675504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125803598..125803598hg38UCSC Ensembl
chr6:126124744..126124744hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5679616
Supporting Variants
Samples
Known GenesNCOA7
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)nssv17227995
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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