A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14412967



Internal ID22148216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47090909..47090961hg38UCSC Ensembl
chrX:46950308..46950360hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191145
Supporting Variants
SamplesHG00514
Known GenesRGN
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14412967
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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