A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14412671



Internal ID22147891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130504642..130504720hg38UCSC Ensembl
chrX:129638616..129638694hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3280310
Supporting Variants
SamplesHG00514
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)nssv14412671
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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