A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375764



Internal ID22311644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:11717222..11717813hg38UCSC Ensembl
chrX:11735342..11735933hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38592
hg19592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200941
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)nssv14375764
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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