A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262743



Internal ID22202454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:55236944..55240309hg38UCSC Ensembl
Outerchr1:55702617..55705982hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381654
hg191654
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222744
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262743
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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