A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5918587



Internal ID22693808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8781829..8781880hg38UCSC Ensembl
chr12:8934425..8934476hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365175
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5918587
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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