A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5910558



Internal ID22685769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13243607..13243739hg38UCSC Ensembl
chr12:13396541..13396673hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366877
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5910558
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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