A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378722



Internal ID22292942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47104790..47105316hg38UCSC Ensembl
chrX:46964189..46964715hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38527
hg19527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202356
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14378722
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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