A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562036



Internal ID22430802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2727805..2727805hg38UCSC Ensembl
chr20:2708451..2708451hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14297104, nssv14297105
SamplesHG00731, HG00733
Known GenesEBF4
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)nsv3562036
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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