A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17603103



Internal ID21795150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53105816..53105816hg38UCSC Ensembl
chr12:53499600..53499600hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6095950
Supporting Variants
Samples
Known GenesSOAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17603103
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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