A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17464205



Internal ID22522090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98645324..98648223hg38UCSC Ensembl
chr12:99039102..99042001hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382900
hg192900
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5859618
Supporting Variants
Samples
Known GenesAPAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17464205
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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