A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279497



Internal ID22141911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:90292640..90348859hg38UCSC Ensembl
Outerchr7:89921954..89978173hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg386004
hg196004
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225614
Supporting Variants
SamplesHG00513
Known GenesC7orf63, GTPBP10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279497
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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