A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200045



Internal ID22349552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:227585390..227601796hg38UCSC Ensembl
Outerchr1:227773091..227789497hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3816407
hg1916407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256120
SamplesHG00513
Known GenesZNF678
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200045
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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