A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18220936



Internal ID20787976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39600201..39630200hg38UCSC Ensembl
chr7:39639800..39669799hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3830000
hg1930000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6603641
Supporting Variants
Samples
Known GenesRALA, YAE1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18220936
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00038


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