A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244003



Internal ID21691512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48472753..48472753hg38UCSC Ensembl
chr3:48514162..48514162hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724034
Supporting Variants
Samples
Known GenesSHISA5
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)nssv17244003
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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