A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116182



Internal ID21299448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30383095..30387430hg38UCSC Ensembl
Innerchr8:30240611..30244946hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg384336
hg194336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1169n145
Supporting Variantsnssv14087491
Samplessample348
Known GenesRBPMS, RBPMS-AS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116182
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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