A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204491



Internal ID22353332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:169746188..169853232hg38UCSC Ensembl
Outerchr2:170602698..170709742hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38107045
hg19107045
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264699
SamplesHG00513
Known GenesKLHL23, METTL5, PHOSPHO2-KLHL23, SSB, UBR3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204491
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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