A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243130



Internal ID22375478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137779244..137782326hg38UCSC Ensembl
Outerchr9:140673696..140676778hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253103
SamplesHG00512
Known GenesEHMT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243130
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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