A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225614



Internal ID22368689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:90292640..90348859hg38UCSC Ensembl
Outerchr7:89921954..89978173hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg386004
hg196004
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279496, nssv14279497
SamplesHG00512, HG00513
Known GenesC7orf63, GTPBP10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225614
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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