A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263268



Internal ID22145783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152206700..152228831hg38UCSC Ensembl
Outerchr1:152179176..152201307hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3812382
hg1912382
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223302
Supporting Variants
SamplesHG00514
Known GenesHRNR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263268
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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