A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278782



Internal ID22277953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:135575576..135590764hg38UCSC Ensembl
Outerchr7:135260324..135275512hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3815189
hg1915189
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210932
Supporting Variants
SamplesNA19239
Known GenesNUP205
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278782
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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