A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288293



Internal ID22386706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:122705693..122705957hg38UCSC Ensembl
chr7:122345747..122346011hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8732n152
Supporting Variantsnssv14438370, nssv14390552
SamplesNA19240, HG00514
Known GenesCADPS2
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)nsv3288293
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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