A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249600



Internal ID22344203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:66767606..66785839hg38UCSC Ensembl
Outerchr8:67679841..67698074hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38570
hg19570
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280549
SamplesNA19239
Known GenesC8orf44-SGK3, PTTG3P, SGK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249600
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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