A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6459871



Internal ID21117424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53755298..53762289hg38UCSC Ensembl
chr12:54149082..54156073hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg386992
hg196992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001472
Samples
Known GenesCISTR-ACT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6459871
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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