A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18227047



Internal ID20794087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29574196..29588239hg38UCSC Ensembl
chr6:29541973..29556016hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3814044
hg1914044
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6401542
Supporting Variants
Samples
Known GenesOR2H2, SNORD32B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18227047
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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