A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264280



Internal ID22257615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:162710386..162726658hg38UCSC Ensembl
Outerchr1:162680176..162696448hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382069
hg192069
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230054
Supporting Variants
SamplesNA19238
Known GenesDDR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264280
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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