A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229483



Internal ID22371323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:124638372..124648145hg38UCSC Ensembl
Outerchr7:124278426..124288199hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg389774
hg199774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278110, nssv14278108, nssv14278111, nssv14278107, nssv14278112, nssv14278109
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229483
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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