A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559270



Internal ID22428074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:37821228..37821228hg38UCSC Ensembl
chr10:38110156..38110156hg19UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14340194, nssv14340193
SamplesNA19238, NA19240
Known GenesZNF248
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3559270
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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