A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217261



Internal ID22362976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:155313190..155351766hg38UCSC Ensembl
Outerchr7:155104900..155144468hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg387003
hg197003
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278656, nssv14278658, nssv14278659, nssv14278660, nssv14278655, nssv14278657, nssv14278661
SamplesHG00512, NA19238, 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)nsv3217261
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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