A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280467



Internal ID22378780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30868509..30868581hg38UCSC Ensembl
chrX:30886626..30886698hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10074n152
Supporting Variantsnssv14413398
SamplesHG00514
Known GenesTAB3
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)nsv3280467
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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