A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14437287



Internal ID22180488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76791209..76791383hg38UCSC Ensembl
chr9:79406125..79406299hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3283436
Supporting Variants
SamplesHG00514
Known GenesPRUNE2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14437287
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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