A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404000



Internal ID22309160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71220893..71220893hg38UCSC Ensembl
chrX:70440743..70440743hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524258
Supporting Variants
SamplesNA19240
Known GenesBCYRN1, GJB1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14404000
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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