A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5919691



Internal ID22694913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12704264..12704447hg38UCSC Ensembl
chr12:12857198..12857381hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354702
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5919691
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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