A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6334048



Internal ID20867229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197289201..197290000hg38UCSC Ensembl
chr1:197258331..197259130hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18056401
Samples
Known GenesCRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6334048
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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