A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318403



Internal ID20851495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196799066..196923990hg38UCSC Ensembl
chr1:196768196..196893120hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38124925
hg19124925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv491n223
Supporting Variantsnssv18056615
Samples
Known GenesCFHR1, CFHR4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318403
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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