A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999603



Internal ID20566643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18727796..18728346hg38UCSC Ensembl
chr12:18880730..18881280hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38551
hg19551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6467620
Supporting Variants
Samples
Known GenesPLCZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999603
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00021


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