A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198830



Internal ID22348505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:28494601..28494668hg38UCSC Ensembl
chrX:28512718..28512785hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10068n152
Supporting Variantsnssv14383512, nssv14439913
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198830
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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