A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704470



Internal ID21730791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:63888049..63888049hg38UCSC Ensembl
chr12:64281829..64281829hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17192549
Samples
Known GenesSRGAP1
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)nsv5704470
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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