A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001430



Internal ID20568470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53103580..53110474hg38UCSC Ensembl
chr12:53497364..53504258hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg386895
hg196895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6463872
Supporting Variants
Samples
Known GenesSOAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001430
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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