A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222720



Internal ID22364546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:137552401..137570800hg38UCSC Ensembl
Outerchr7:137237147..137255546hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg381330
hg191330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278064, nssv14278060, nssv14278062, nssv14278059, nssv14278061, nssv14278063
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known GenesDGKI
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222720
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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