A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214047



Internal ID22360811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:493712..496888hg38UCSC Ensembl
Outerchr7:533349..536525hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381419
hg191419
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277838, nssv14277840, nssv14277842, nssv14277841, nssv14277839
SamplesHG00512, NA19238, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214047
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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