A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222330



Internal ID22366437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:155791257..155793073hg38UCSC Ensembl
Outerchr7:155583951..155585767hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg381948
hg191948
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278669, nssv14278664, nssv14278665, nssv14278662, nssv14278668, nssv14278667, nssv14278666, nssv14278670, nssv14278663
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222330
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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