A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17461085



Internal ID22518968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57494569..57498859hg38UCSC Ensembl
chr12:57888352..57892642hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg384291
hg194291
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5866497
Supporting Variants
Samples
Known GenesMARS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17461085
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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