A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243825



Internal ID22375685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137028540..137035135hg38UCSC Ensembl
Outerchr9:139922992..139929587hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38940
hg19940
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280736, nssv14280737
SamplesNA19238, HG00513
Known GenesABCA2, C9orf139, FUT7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243825
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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