A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947058



Internal ID22722559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42304030..42306290hg38UCSC Ensembl
chr12:42697832..42700092hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382261
hg192261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353934
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947058
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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