A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266223



Internal ID22121140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237529538..237550519hg38UCSC Ensembl
Outerchr2:238438181..238459162hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg386385
hg196385
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228493
Supporting Variants
SamplesHG00512
Known GenesMLPH
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266223
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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