A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213079



Internal ID22360136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:8144251..8158157hg38UCSC Ensembl
Outerchr7:8183881..8197787hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg381067
hg191067
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278417, nssv14278418, nssv14278420, nssv14278419
SamplesNA19238, HG00731, HG00733, HG00513
Known GenesICA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213079
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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