A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6332678



Internal ID20865852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196665981..196666776hg38UCSC Ensembl
chr1:196635111..196635906hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38796
hg19796
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202015
Samples
Known GenesCFH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6332678
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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