A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265774



Internal ID22146155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:170716807..170718655hg38UCSC Ensembl
Outerchr2:171573317..171575165hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3858754
hg1958754
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217623
Supporting Variants
SamplesHG00514
Known GenesSP5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265774
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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