A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17192549



Internal ID21640058
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 StatusS
Merged Variantsnsv5704470
Supporting Variants
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)nssv17192549
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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