A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238587



Internal ID21686096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:35221397..35221397hg38UCSC Ensembl
chr11:35242944..35242944hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728881
Supporting Variants
Samples
Known GenesCD44
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)nssv17238587
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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