A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278533



Internal ID22259266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:49648136..49685972hg38UCSC Ensembl
Outerchr7:49687732..49725568hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg381636
hg191636
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219346
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278533
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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