A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14413003



Internal ID22148258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71520412..71521245hg38UCSC Ensembl
chrX:70740262..70741095hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38834
hg19834
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3174142
Supporting Variants
SamplesHG00514
Known GenesBCYRN1, TAF1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14413003
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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