A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17375928



Internal ID22601597
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 StatusS
Merged Variantsnsv5886261
Supporting Variants
Samples
Known GenesC1orf168
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17375928
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.011


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