A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267442



Internal ID22203884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219448260..219490566hg38UCSC Ensembl
Outerchr2:220312982..220355288hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3841383
hg1941383
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221513
Supporting Variants
SamplesHG00732
Known GenesSPEG
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267442
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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