A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227425



Internal ID22369924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:70494417..70506949hg38UCSC Ensembl
Outerchr7:69959403..69971935hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg381595
hg191595
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279638
SamplesNA19239
Known GenesAUTS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227425
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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