A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717531



Internal ID21743852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:33671910..33671910hg38UCSC Ensembl
chr11:33693456..33693456hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg381104
hg191104
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250020
Samples
Known GenesKIAA1549L
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)nsv5717531
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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