A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197133



Internal ID22347044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:135334675..135344298hg38UCSC Ensembl
Outerchr2:136092245..136101868hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg389624
hg199624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264454, nssv14264455
SamplesNA19239, NA19240
Known GenesZRANB3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197133
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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