A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17367262



Internal ID22592931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18689471..18691700hg38UCSC Ensembl
chr12:18842405..18844634hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg382230
hg192230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5917002
Supporting Variants
Samples
Known GenesPLCZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17367262
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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