A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6487549



Internal ID21145102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129553931..129594366hg38UCSC Ensembl
chr12:130038476..130078911hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3840436
hg1940436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997881
Samples
Known GenesTMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6487549
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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