A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403247



Internal ID22325100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:118054837..118055208hg38UCSC Ensembl
chrX:117188800..117189171hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3187462
Supporting Variants
SamplesNA19240
Known GenesKLHL13
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14403247
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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