A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719051



Internal ID21745372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155768032..155768032hg38UCSC Ensembl
chr1:155737823..155737823hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38389
hg19389
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250241
Samples
Known GenesGON4L
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5719051
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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