A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194298



Internal ID20761338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73595801..73749100hg38UCSC Ensembl
chr10:75355559..75508858hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg38153300
hg19153300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6441859
Supporting Variants
Samples
Known GenesAGAP5, BMS1P4, GLUD1P3, MYOZ1, SEC24C, SYNPO2L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194298
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00032


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