A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404258



Internal ID22290987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:17752363..17752472hg38UCSC Ensembl
chrX:17770483..17770592hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3178884
Supporting Variants
SamplesNA19240
Known GenesSCML1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14404258
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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