A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6315670



Internal ID20848742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228653789..228670971hg38UCSC Ensembl
chr1:228789536..228806718hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3817183
hg1917183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202737
Samples
Known GenesRHOU
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6315670
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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