A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273948



Internal ID22185923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2104879..2126707hg38UCSC Ensembl
Outerchr1:2036318..2058146hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg383480
hg193480
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210800
Supporting Variants
SamplesHG00731
Known GenesPRKCZ
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273948
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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