A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17458237



Internal ID22516118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:38796952..38800126hg38UCSC Ensembl
chr12:39190754..39193928hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg383175
hg193175
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5857376
Supporting Variants
Samples
Known GenesCPNE8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17458237
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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