A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201956



Internal ID22351186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:185024885..185048662hg38UCSC Ensembl
Outerchr1:184994017..185017794hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3823778
hg1923778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257237, nssv14257236
SamplesHG00731, HG00733
Known GenesRNF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201956
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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