A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886261



Internal ID22661247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56719767..56719853hg38UCSC Ensembl
chr1:57185440..57185526hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375928
Samples
Known GenesC1orf168
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886261
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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