A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241879



Internal ID21689388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61372973..61372973hg38UCSC Ensembl
chr11:61140445..61140445hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38791
hg19791
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716447
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)nssv17241879
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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