A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195672



Internal ID22345808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:40046522..40046576hg38UCSC Ensembl
chrX:39905775..39905829hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10089n152
Supporting Variantsnssv14391690
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195672
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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