A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699147



Internal ID21725468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8085715..8085715hg38UCSC Ensembl
chr12:8238311..8238311hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17220890, nssv17192344
Samples
Known GenesNECAP1
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)nsv5699147
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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