A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699195



Internal ID21725516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51333668..51333668hg38UCSC Ensembl
chr19:51836922..51836922hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17201405, nssv17225503
Samples
Known GenesVSIG10L
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)nsv5699195
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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