A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209787



Internal ID22357812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:125170694..125222841hg38UCSC Ensembl
Outerchr3:124889538..124941685hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3852148
hg1952148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6134n152
Supporting Variantsnssv14271697, nssv14271698, nssv14271701, nssv14271699, nssv14271696, nssv14271700
SamplesHG00512, NA19239, HG00731, NA19240, HG00733, HG00514
Known GenesSLC12A8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209787
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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