A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214662



Internal ID22361252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:83414175..83423744hg38UCSC Ensembl
Outerchr7:83043491..83053060hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg389570
hg199570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277413
SamplesHG00731
Known GenesSEMA3E
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214662
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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