A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241098



Internal ID21688607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52776248..52776248hg38UCSC Ensembl
chr14:53242966..53242966hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718379
Supporting Variants
Samples
Known GenesGNPNAT1
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)nssv17241098
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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