A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280299



Internal ID22378611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:20094509..20094568hg38UCSC Ensembl
chrX:20112627..20112686hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10046n152
Supporting Variantsnssv14439904
SamplesHG00733
Known GenesMAP7D2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3280299
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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