A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279630



Internal ID22287475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:57020113..57092983hg38UCSC Ensembl
Outerchr7:57087820..57160690hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg385834
hg195834
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220660
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279630
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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