A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6465049



Internal ID21122602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:755001..761400hg38UCSC Ensembl
chr12:864167..870566hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg386400
hg196400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192248
Samples
Known GenesWNK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6465049
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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