A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267455



Internal ID22224649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:3212739..3236733hg38UCSC Ensembl
Outerchr2:3216510..3240504hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381223
hg191223
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222879
Supporting Variants
SamplesHG00733
Known GenesTSSC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267455
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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