A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728106



Internal ID21754427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:35292282..35292282hg38UCSC Ensembl
chr1:35757883..35757883hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38857
hg19857
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247301, nssv17240265
Samples
Known GenesZMYM4
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)nsv5728106
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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