A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17350180



Internal ID22575849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:197206..197206hg38UCSC Ensembl
chr12:306372..306372hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5979200
Supporting Variants
Samples
Known GenesSLC6A12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17350180
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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