A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403201



Internal ID22291851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49313521..49313521hg38UCSC Ensembl
chrX:49170000..49170000hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38301876
hg19301876
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3532937
Supporting Variants
SamplesNA19240
Known GenesGAGE10
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14403201
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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