A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17193720



Internal ID21641229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122872688..122872688hg38UCSC Ensembl
chr12:123357235..123357235hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5709654
Supporting Variants
Samples
Known GenesVPS37B
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)nssv17193720
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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