A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224173



Internal ID22367684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:159382732..159393542hg38UCSC Ensembl
Outerchr2:160239243..160250053hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg386561
hg196561
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265986
SamplesNA19239
Known GenesBAZ2B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224173
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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