A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204326



Internal ID22353195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:101638369..101657592hg38UCSC Ensembl
Outerchr3:101357213..101376436hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg3819224
hg1919224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270194, nssv14271050, nssv14270193, nssv14271051, nssv14271049
SamplesNA19238, HG00731, HG00733, HG00513, HG00514
Known GenesZBTB11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204326
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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