A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226139



Internal ID22369051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100928783..101020398hg38UCSC Ensembl
Outerchr7:100526403..100663679hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3865063
hg1965063
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277949, nssv14277952, nssv14277946, nssv14277947, nssv14277953, nssv14277948, nssv14277951, nssv14277945, nssv14277950
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMUC12, MUC17
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226139
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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