A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278528



Internal ID22199028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:46216187..46252465hg38UCSC Ensembl
Outerchr7:46255785..46292063hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg381178
hg191178
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224905
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278528
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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