A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267407



Internal ID22187526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233212779..233219740hg38UCSC Ensembl
Outerchr2:234121425..234128386hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381332
hg191332
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214252
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267407
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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