A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17181253



Internal ID21628762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160700794..160700794hg38UCSC Ensembl
chr1:160670584..160670584hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5682737
Supporting Variants
Samples
Known GenesCD48
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)nssv17181253
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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