A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215966



Internal ID22362118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:113744808..113791390hg38UCSC Ensembl
Outerchr7:113384863..113431445hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3846583
hg1946583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278098, nssv14278102, nssv14278101, nssv14278099, nssv14278100, nssv14278105, nssv14278106, nssv14278103, nssv14278104
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215966
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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