A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278830



Internal ID22303931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:134618234..134629937hg38UCSC Ensembl
Outerchr7:134302986..134314689hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3811704
hg1911704
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221435
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278830
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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