A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562707



Internal ID22431453
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14293878, nssv14293879
SamplesHG00731, HG00733
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)nsv3562707
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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