A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17350785



Internal ID22576454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18686475..18686526hg38UCSC Ensembl
chr12:18839409..18839460hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5926499
Supporting Variants
Samples
Known GenesPLCZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17350785
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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