A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279519



Internal ID22136081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:27094498..27096562hg38UCSC Ensembl
Outerchr7:27134117..27136181hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg3821882
hg1921882
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227659
Supporting Variants
SamplesHG00513
Known GenesHOTAIRM1, HOXA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279519
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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