A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278656



Internal ID22134295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:155313190..155351766hg38UCSC Ensembl
Outerchr7:155104900..155144468hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg387003
hg197003
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217261
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278656
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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