A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241030



Internal ID21688539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:136290688..136290688hg38UCSC Ensembl
chr3:136009530..136009530hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718825
Supporting Variants
Samples
Known GenesPCCB
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)nssv17241030
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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