A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6322464



Internal ID20855577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197310710..197365968hg38UCSC Ensembl
chr1:197279840..197335098hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3855259
hg1955259
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202312
Samples
Known GenesCRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6322464
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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