A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6464327



Internal ID21121880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22193006..22193501hg38UCSC Ensembl
chr12:22345940..22346435hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17998258
Samples
Known GenesST8SIA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6464327
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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