A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265119



Internal ID22315079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:206217255..206229908hg38UCSC Ensembl
Outerchr2:207081979..207094632hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg384422
hg194422
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211418
Supporting Variants
SamplesNA19240
Known GenesGPR1, GPR1-AS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265119
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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