A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246603



Internal ID21694112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174386495..174386495hg38UCSC Ensembl
chr2:175251223..175251223hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381177
hg191177
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719389
Supporting Variants
Samples
Known GenesCIR1
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)nssv17246603
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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