A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17175503



Internal ID21623012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:61204115..61204115hg38UCSC Ensembl
chr5:60499942..60499942hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5693990
Supporting Variants
Samples
Known Genes
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)nssv17175503
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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