A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197513



Internal ID22347385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:138579155..138622197hg38UCSC Ensembl
Outerchr2:139336725..139379767hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3843043
hg1943043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265247
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197513
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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