A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278785



Internal ID22277958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:140576758..140586120hg38UCSC Ensembl
Outerchr7:140276558..140285920hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg389363
hg199363
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223424
Supporting Variants
SamplesNA19239
Known GenesDENND2A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278785
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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