A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17207807



Internal ID21655316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240832405..240832405hg38UCSC Ensembl
chr1:240995705..240995705hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5684128
Supporting Variants
Samples
Known GenesRGS7
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)nssv17207807
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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