A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218987



Internal ID22364150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158701478..158745419hg38UCSC Ensembl
Outerchr7:158494169..158538110hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3843942
hg1943942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278217, nssv14278216, nssv14278215
SamplesNA19238, HG00513, HG00514
Known GenesESYT2, NCAPG2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218987
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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