A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6480761



Internal ID21138314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116202576..116213531hg38UCSC Ensembl
chr12:116640381..116651336hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3810956
hg1910956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997124
Samples
Known GenesMED13L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6480761
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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