A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247839



Internal ID22376811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2757203..2770576hg38UCSC Ensembl
Outerchr12:2866369..2879742hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38607
hg19607
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256101
SamplesHG00731
Known GenesLOC283440
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247839
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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