A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722136



Internal ID21748457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32423698..32423698hg38UCSC Ensembl
chr17:30750717..30750717hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381235
hg191235
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240490
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)nsv5722136
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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