A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278003



Internal ID22259671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:108857869..108875065hg38UCSC Ensembl
Outerchr7:108498313..108515122hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg385652
hg195652
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214171
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278003
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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