A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278794



Internal ID22274210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:144337133..144368943hg38UCSC Ensembl
Outerchr7:144034226..144066036hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3831811
hg1931811
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228162
Supporting Variants
SamplesNA19239
Known GenesARHGEF5, RNU6-57P
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278794
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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