A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886746



Internal ID22661735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226568956..226569007hg38UCSC Ensembl
chr1:226756657..226756708hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350252
Samples
Known GenesC1orf95
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886746
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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