A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277374



Internal ID22132961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:87847916..87920849hg38UCSC Ensembl
Outerchr7:87477231..87550164hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg3872934
hg1972934
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225370
Supporting Variants
SamplesHG00513
Known GenesDBF4, SLC25A40
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277374
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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