A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262690



Internal ID22211920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:54997201..55006299hg38UCSC Ensembl
Outerchr1:55462874..55471972hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38845
hg19845
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219372
Supporting Variants
SamplesHG00733
Known GenesBSND
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262690
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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