A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246410



Internal ID22376402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43492565..43528005hg38UCSC Ensembl
Outerchr22:43888445..43923885hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38957
hg19957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269130
SamplesHG00512
Known GenesEFCAB6-AS1, MPPED1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246410
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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