A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249976



Internal ID21697485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27509842..27509842hg38UCSC Ensembl
chr6:27477621..27477621hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38712
hg19712
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724092
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)nssv17249976
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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