A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5927731



Internal ID22702961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46587454..46597087hg38UCSC Ensembl
chr12:46981237..46990870hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg389634
hg199634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364670
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5927731
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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