A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729035



Internal ID21755356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:155147931..155147931hg38UCSC Ensembl
chr4:156069083..156069083hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg381140
hg191140
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243295
Samples
Known Genes
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)nsv5729035
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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