A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941512



Internal ID22716937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119281925..119282095hg38UCSC Ensembl
chr12:119719730..119719900hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17352945
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941512
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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