A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17231542



Internal ID21679051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6327763..6327763hg38UCSC Ensembl
chr4:6329490..6329490hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5680490
Supporting Variants
Samples
Known GenesPPP2R2C
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)nssv17231542
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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