A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5859033



Internal ID22633968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120438014..120447324hg38UCSC Ensembl
chr12:120875817..120885127hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg389311
hg199311
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17467798
Samples
Known GenesCOX6A1, GATC, TRIAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5859033
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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