A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930742



Internal ID22706014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52918179..52918238hg38UCSC Ensembl
chr12:53311963..53312022hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360954
Samples
Known GenesKRT8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930742
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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