A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5937623



Internal ID22712994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76506919..76508031hg38UCSC Ensembl
chr12:76900699..76901811hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381113
hg191113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361335
Samples
Known GenesOSBPL8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5937623
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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