A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192684



Internal ID20759724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86576001..86602700hg38UCSC Ensembl
chr12:86969778..86996477hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3826700
hg1926700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6462062
Supporting Variants
Samples
Known GenesMGAT4C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192684
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00036


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