A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5731044



Internal ID21757365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:95020109..95020109hg38UCSC Ensembl
chr4:95941260..95941260hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233459, nssv17251000
Samples
Known GenesBMPR1B
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)nsv5731044
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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