A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6488129



Internal ID21145682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121712401..121712900hg38UCSC Ensembl
chr12:122150307..122150806hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997801
Samples
Known GenesTMEM120B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6488129
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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