A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205215



Internal ID22353940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:141906090..141906301hg38UCSC Ensembl
chrX:140993876..140994087hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10326n152
Supporting Variantsnssv14438697
SamplesHG00733
Known GenesMAGEC1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205215
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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