A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18230899



Internal ID20797939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5886601..6187100hg38UCSC Ensembl
chr7:5926232..6226731hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38300500
hg19300500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6601633
Supporting Variants
Samples
Known GenesAIMP2, ANKRD61, CCZ1, CYTH3, EIF2AK1, PMS2, RSPH10B, RSPH10B2, USP42
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18230899
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00012


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