A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234968



Internal ID21682477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93216457..93216457hg38UCSC Ensembl
chr14:93682803..93682803hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720820
Supporting Variants
Samples
Known GenesUBR7
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)nssv17234968
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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