A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194963



Internal ID22345211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:135374593..135403747hg38UCSC Ensembl
chrX:134508518..134537672hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3829155
hg1929155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10298n152
Supporting Variantsnssv14373266
SamplesNA19240
Known GenesLOC100506790
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194963
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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