A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17357927



Internal ID22583596
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 StatusS
Merged Variantsnsv5932884
Supporting Variants
Samples
Known GenesPFKM, SENP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17357927
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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