A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221434



Internal ID22365825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:121723054..121742295hg38UCSC Ensembl
Outerchr7:121363108..121382349hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38858
hg19858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280085
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221434
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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