A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6319124



Internal ID20852216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196710401..197067700hg38UCSC Ensembl
chr1:196679531..197036830hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38357300
hg19357300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202016
Samples
Known GenesCFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, F13B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6319124
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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