A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186842



Internal ID20753882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11167001..11173400hg38UCSC Ensembl
chr12:11319600..11325999hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg386400
hg196400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471659
Supporting Variants
Samples
Known GenesLOC100129361, PRH1-PRR4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186842
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00031


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