A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280106



Internal ID22378416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:121199098..121199156hg38UCSC Ensembl
chrX:120332952..120333010hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14391331, nssv14412652
SamplesNA19240, HG00514
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)nsv3280106
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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