A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725102



Internal ID21751423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29267476..29267476hg38UCSC Ensembl
chr17:27594494..27594494hg19UCSC Ensembl
Cytoband17q11.2
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 Variantsnssv17234574, nssv17237928
Samples
Known GenesNUFIP2
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)nsv5725102
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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