A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946724



Internal ID22722219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52646092..52659840hg38UCSC Ensembl
chr12:53039876..53053624hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3813749
hg1913749
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365194
Samples
Known GenesKRT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946724
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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