A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278111



Internal ID22262857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:124638372..124648145hg38UCSC Ensembl
Outerchr7:124278426..124288199hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg389774
hg199774
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229483
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278111
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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