A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6456183



Internal ID21113736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9964309..10014216hg38UCSC Ensembl
chr12:10116908..10166815hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3849908
hg1949908
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188528
Samples
Known GenesCLEC12A, CLEC12B, CLEC1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6456183
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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