A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6095950



Internal ID22005183
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 StatusM
Merged Variants
Supporting Variantsnssv17603103
Samples
Known GenesSOAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6095950
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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