A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6471511



Internal ID21129064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13194466..13200854hg38UCSC Ensembl
chr12:13347400..13353788hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg386389
hg196389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17999288
Samples
Known GenesEMP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6471511
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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