A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6493429



Internal ID21150982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125587817..125594898hg38UCSC Ensembl
chr12:126072363..126079444hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg387082
hg197082
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17999109
Samples
Known GenesTMEM132B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6493429
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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