A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280177



Internal ID22378488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130504646..130504725hg38UCSC Ensembl
chrX:129638620..129638699hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10287n152
Supporting Variantsnssv14438663
SamplesHG00733
Known Genes
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)nsv3280177
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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