A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718208



Internal ID21744529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:35328120..35328120hg38UCSC Ensembl
chr1:35793721..35793721hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234413, nssv17245229
Samples
Known GenesZMYM4
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)nsv5718208
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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