A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404324



Internal ID22287632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31257170..31257307hg38UCSC Ensembl
chrX:31275287..31275424hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3177225
Supporting Variants
SamplesNA19240
Known GenesDMD
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14404324
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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