A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238345



Internal ID21685854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72116737..72116737hg38UCSC Ensembl
chr11:71827783..71827783hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728816
Supporting Variants
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17238345
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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