A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250020



Internal ID21697529
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 StatusS
Merged Variantsnsv5717531
Supporting Variants
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)nssv17250020
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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