A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14438651



Internal ID22232770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124350928..124350982hg38UCSC Ensembl
chrX:123484778..123484832hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3282635
Supporting Variants
SamplesHG00733
Known GenesSH2D1A
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)nssv14438651
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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