A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17362514



Internal ID22588183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45972901..45972901hg38UCSC Ensembl
chr12:46366684..46366684hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5973050
Supporting Variants
Samples
Known GenesSCAF11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17362514
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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