A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265612



Internal ID22223955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234609691..234653355hg38UCSC Ensembl
Outerchr2:235518335..235561999hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381450
hg191450
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225733
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265612
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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