A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6470833



Internal ID21128386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49811733..49819272hg38UCSC Ensembl
chr12:50205516..50213055hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg387540
hg197540
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186300
Samples
Known GenesNCKAP5L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6470833
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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