A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282381



Internal ID22380715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:57169497..57169555hg38UCSC Ensembl
chrX:57195930..57195988hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10137n152
Supporting Variantsnssv14439972
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)nsv3282381
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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