A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5877280



Internal ID22652243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:192579422..192657019hg38UCSC Ensembl
chr1:192548552..192626149hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3877598
hg1977598
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364281
Samples
Known GenesRGS1, RGS13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5877280
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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