A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192713



Internal ID22343259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:129784903..129785052hg38UCSC Ensembl
chrX:128918879..128919028hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10285n152
Supporting Variantsnssv14376346
SamplesNA19240
Known GenesSASH3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192713
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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