A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193546



Internal ID22343981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:46498861..46499236hg38UCSC Ensembl
chrX:46358296..46358671hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10109n152
Supporting Variantsnssv14389375
SamplesNA19240
Known GenesZNF674
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193546
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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