A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273362



Internal ID22189045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206415604..206469754hg38UCSC Ensembl
Outerchr1:206588964..206643097hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3837357
hg1937357
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220229
Supporting Variants
SamplesHG00731
Known GenesSRGAP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273362
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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