A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194818



Internal ID22345085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207113053..207121335hg38UCSC Ensembl
Outerchr1:207286398..207294680hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg388283
hg198283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256192, nssv14256191
SamplesHG00512, HG00732
Known GenesC4BPA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194818
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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