A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234975



Internal ID21682484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240958119..240958119hg38UCSC Ensembl
chr2:241897536..241897536hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722909
Supporting Variants
Samples
Known GenesLOC200772
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)nssv17234975
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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