A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261193



Internal ID22145488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:27873447..27892006hg38UCSC Ensembl
Outerchr1:28199958..28218517hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381425
hg191425
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220879
Supporting Variants
SamplesHG00514
Known GenesRPA2, THEMIS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261193
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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