A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6482450



Internal ID21140003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120244624..120245750hg38UCSC Ensembl
chr12:120682427..120683553hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381127
hg191127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997423
Samples
Known GenesPXN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6482450
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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