A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209890



Internal ID22357900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:68325478..68325590hg38UCSC Ensembl
chr7:67790465..67790577hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8571n152
Supporting Variantsnssv14437646, nssv14378207
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209890
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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