A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274548



Internal ID22153215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161468595..161510780hg38UCSC Ensembl
Outerchr1:161438385..161480570hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38185612
hg19185612
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222594
Supporting Variants
SamplesHG00514
Known GenesFCGR2A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274548
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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