A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14358227



Internal ID22196653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47638566..47638566hg38UCSC Ensembl
chr11:47660118..47660118hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381235
hg191235
Variant TypeCNV sva insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3559796
Supporting Variants
SamplesHG00731
Known GenesMTCH2
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)nssv14358227
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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