A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14430058



Internal ID22172024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49069262..49069378hg38UCSC Ensembl
chrX:48926914..48927030hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3173398
Supporting Variants
SamplesHG00514
Known GenesCCDC120
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14430058
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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