A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17478215



Internal ID22536116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37380839..37381892hg38UCSC Ensembl
chr17:35737777..35738830hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381054
hg191054
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5875908
Supporting Variants
Samples
Known GenesACACA, C17orf78
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17478215
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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