A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14293878



Internal ID22188109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85191043..85191043hg38UCSC Ensembl
chr2:85418166..85418166hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38549
hg19549
Variant TypeCNV sva insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562707
Supporting Variants
SamplesHG00731
Known GenesTCF7L1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14293878
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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