A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3279833



Internal ID22378138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:9791968..9792055hg38UCSC Ensembl
chrX:9760008..9760095hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10031n152
Supporting Variantsnssv14413372
SamplesHG00514
Known GenesSHROOM2
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)nsv3279833
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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