A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242989



Internal ID21690498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11775790..11775790hg38UCSC Ensembl
chr2:11915916..11915916hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38448
hg19448
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715554
Supporting Variants
Samples
Known GenesLPIN1
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)nssv17242989
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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