A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265045



Internal ID22209604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:134596596..134610817hg38UCSC Ensembl
Outerchr2:135354166..135368387hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg381036
hg191036
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224814
Supporting Variants
SamplesHG00732
Known GenesTMEM163
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265045
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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