A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17467777



Internal ID22525669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51049083..51052481hg38UCSC Ensembl
chr12:51442866..51446264hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383399
hg193399
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5861369
Supporting Variants
Samples
Known GenesLETMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17467777
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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