A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278036



Internal ID22198954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:131994919..132090198hg38UCSC Ensembl
Outerchr7:131679678..131774957hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg381433
hg191433
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219185
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278036
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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