A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278216



Internal ID22154517
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218987
Supporting Variants
SamplesHG00514
Known GenesESYT2, NCAPG2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278216
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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