A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3271039



Internal ID22377535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:59697007..59697135hg38UCSC Ensembl
chr10:61456765..61456893hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv955n152
Supporting Variantsnssv14439056
SamplesHG00514
Known GenesSLC16A9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3271039
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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