A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219018



Internal ID22364170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:126484534..126485603hg38UCSC Ensembl
chr9:129246813..129247882hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381070
hg191070
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9750n152
Supporting Variantsnssv14381706
SamplesNA19240
Known GenesMVB12B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219018
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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