A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198587



Internal ID22348291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207512039..207579178hg38UCSC Ensembl
Outerchr1:207685384..207752523hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3867140
hg1967140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278367, nssv14278368, nssv14278366, nssv14278365, nssv14278370, nssv14278364, nssv14278363, nssv14278369
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesCR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198587
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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