A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17457426



Internal ID22515307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4631250..4633433hg38UCSC Ensembl
chr12:4740416..4742599hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg382184
hg192184
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5852618
Supporting Variants
Samples
Known GenesAKAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17457426
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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