A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6495536



Internal ID21153089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116759601..116763800hg38UCSC Ensembl
chr12:117197406..117201605hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg384200
hg194200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997165
Samples
Known GenesRNFT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6495536
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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