A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728005



Internal ID21754326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73007965..73007965hg38UCSC Ensembl
chr10:74767723..74767723hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245392
Samples
Known GenesP4HA1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5728005
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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