A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204526



Internal ID22353363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:57169496..57169560hg38UCSC Ensembl
chrX:57195929..57195993hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10137n152
Supporting Variantsnssv14383682
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)nsv3204526
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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