A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198757



Internal ID22348445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:3387569..3387821hg38UCSC Ensembl
chrX:3305610..3305862hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10002n152
Supporting Variantsnssv14413337
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198757
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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