A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17193999



Internal ID21641508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118999700..118999700hg38UCSC Ensembl
chr12:119437505..119437505hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5707842
Supporting Variants
Samples
Known GenesSRRM4
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17193999
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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