A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6479047



Internal ID21136600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116128854..116129478hg38UCSC Ensembl
chr12:116566659..116567283hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38625
hg19625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996002
Samples
Known GenesMED13L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6479047
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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