A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211861



Internal ID22359284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:52673923..52715655hg38UCSC Ensembl
Outerchr7:52741618..52783349hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3823405
hg1923405
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280073
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211861
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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