A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192300



Internal ID20759340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51836498..51898227hg38UCSC Ensembl
chr12:52230282..52292011hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3861730
hg1961730
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6466568
Supporting Variants
Samples
Known GenesANKRD33
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192300
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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