A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207075



Internal ID22355525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:99625549..99732190hg38UCSC Ensembl
chrX:98880547..98987188hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38106642
hg19106642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14387003
SamplesNA19240
Known GenesXRCC6P5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207075
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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