A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241816



Internal ID21689325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173609434..173609434hg38UCSC Ensembl
chr5:173036437..173036437hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728773
Supporting Variants
Samples
Known GenesBOD1
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)nssv17241816
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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