A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267449



Internal ID22203886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238866205..238884436hg38UCSC Ensembl
Outerchr2:239774846..239793077hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381062
hg191062
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216396
Supporting Variants
SamplesHG00732
Known GenesTWIST2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267449
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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