A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14439913



Internal ID22231514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:28494601..28494668hg38UCSC Ensembl
chrX:28512718..28512785hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198830
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14439913
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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