A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5932884



Internal ID22708189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48105909..48119824hg38UCSC Ensembl
chr12:48499692..48513607hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3813916
hg1913916
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17357927
Samples
Known GenesPFKM, SENP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5932884
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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