A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14295500



Internal ID22232007
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562779
Supporting Variants
SamplesHG00733
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)nssv14295500
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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