A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199306



Internal ID20766346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121428901..121549600hg38UCSC Ensembl
chr1:121170761..121291398hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38120700
hg19120638
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333635
Supporting Variants
Samples
Known GenesEMBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199306
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00087


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