A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6461292



Internal ID21118845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104037672..104047144hg38UCSC Ensembl
chr12:104431450..104440922hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg389473
hg199473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17995678
Samples
Known GenesGLT8D2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6461292
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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