A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933901



Internal ID22709219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:58085915..58086056hg38UCSC Ensembl
chr12:58479698..58479839hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360786
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933901
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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