A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190657



Internal ID22341489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:9044192..9149320hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38105129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271171, nssv14271172
SamplesHG00512, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190657
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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