A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6471933



Internal ID21129486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49703497..49704694hg38UCSC Ensembl
chr12:50097280..50098477hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381198
hg191198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001214
Samples
Known GenesFMNL3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6471933
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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