A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193868



Internal ID20760909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:89496401..89533900hg38UCSC Ensembl
chr12:89890178..89927677hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3837500
hg1937500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471319
Supporting Variants
Samples
Known GenesGALNT4, POC1B, POC1B-GALNT4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193868
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00087


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