A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6465338



Internal ID21122891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80507207..80640259hg38UCSC Ensembl
chr12:80900986..81034038hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38133053
hg19133053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18003853
Samples
Known GenesPTPRQ
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6465338
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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