A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722536



Internal ID21748857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96804437..96804437hg38UCSC Ensembl
chr1:97269993..97269993hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236745
Samples
Known GenesPTBP2
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)nsv5722536
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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