A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5852618



Internal ID22627553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4631250..4633433hg38UCSC Ensembl
chr12:4740416..4742599hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg382184
hg192184
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17457426
Samples
Known GenesAKAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5852618
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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