A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238250



Internal ID21685759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43356799..43356799hg38UCSC Ensembl
chr2:43583938..43583938hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5731031
Supporting Variants
Samples
Known GenesTHADA
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)nssv17238250
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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