A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726816



Internal ID21753137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15962548..15962548hg38UCSC Ensembl
chr17:15865862..15865862hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246043, nssv17248323
Samples
Known GenesADORA2B
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)nsv5726816
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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