A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562779



Internal ID22431523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169685718..169685718hg38UCSC Ensembl
chr2:170542228..170542228hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14295499, nssv14295500
SamplesHG00732, HG00733
Known GenesCCDC173
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)nsv3562779
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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