A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6468891



Internal ID21126444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55819769..55820583hg38UCSC Ensembl
chr12:56213553..56214367hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38815
hg19815
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001808
Samples
Known GenesORMDL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6468891
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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