A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6325770



Internal ID20858902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196794612..196919496hg38UCSC Ensembl
chr1:196763742..196888626hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38124885
hg19124885
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv492n223
Supporting Variantsnssv18202019
Samples
Known GenesCFHR1, CFHR4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6325770
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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