A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5731029



Internal ID21757350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48624370..48624370hg38UCSC Ensembl
chr17:46701732..46701732hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249246
Samples
Known GenesHOXB9
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)nsv5731029
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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