A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265308



Internal ID22120780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:68447740..68454361hg38UCSC Ensembl
Outerchr2:68674872..68681493hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381651
hg191651
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219503
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265308
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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