A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252753



Internal ID21700262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:143346793..143346793hg38UCSC Ensembl
chr3:143065635..143065635hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38536
hg19536
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728042
Supporting Variants
Samples
Known GenesSLC9A9, SLC9A9-AS1
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)nssv17252753
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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