A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14439723



Internal ID22182032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:41969857..42219216hg38UCSC Ensembl
chr9:40475835..40735870hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38249360
hg19260036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216528
Supporting Variants
SamplesHG00514
Known GenesFAM74A3, SPATA31A3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14439723
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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