A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217996



Internal ID22363489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:93351896..93402683hg38UCSC Ensembl
Outerchr7:92981208..93031995hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3850788
hg1950788
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277796
SamplesHG00732
Known GenesCCDC132
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217996
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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