A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225785



Internal ID22368810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:101602380..101631661hg38UCSC Ensembl
Outerchr8:102614608..102643889hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3829282
hg1929282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281477, nssv14281476
SamplesNA19238, NA19240
Known GenesGRHL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225785
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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