A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6471659



Internal ID21129212
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 StatusM
Merged Variants
Supporting Variantsnssv18186842
Samples
Known GenesLOC100129361, PRH1-PRR4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6471659
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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