A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6322529



Internal ID20855642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197224643..197307435hg38UCSC Ensembl
chr1:197193773..197276565hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3882793
hg1982793
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202310
Samples
Known GenesCRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6322529
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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