A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14384682



Internal ID22310431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:98751851..98755150hg38UCSC Ensembl
chr7:98381163..98384483hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg383300
hg193321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198273
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14384682
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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