A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228132



Internal ID22370411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:28369841..28388492hg38UCSC Ensembl
Outerchr10:28658770..28677421hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3818652
hg1918652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276120, nssv14276121, nssv14276119, nssv14276122
SamplesHG00512, NA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228132
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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