A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219553



Internal ID22364543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:93027451..93028700hg38UCSC Ensembl
chr9:95789733..95790982hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg381250
hg191250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9664n152
Supporting Variantsnssv14381530, nssv14439574
SamplesNA19240, HG00733
Known GenesFGD3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219553
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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