A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225190



Internal ID22368396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141482495..141503054hg38UCSC Ensembl
Outerchr7:141182295..141202854hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg382583
hg192583
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278582, nssv14278583, nssv14278581
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225190
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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