A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17187654



Internal ID21635163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202405163..202405163hg38UCSC Ensembl
chr1:202374291..202374291hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5674798
Supporting Variants
Samples
Known GenesPPP1R12B
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)nssv17187654
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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