A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6337069



Internal ID20994622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106239641..107907583hg38UCSC Ensembl
chr2:106856097..108524039hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg381667943
hg191667943
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205822
Samples
Known GenesPLGLA, RGPD3, RGPD4, RGPD4-AS1, ST6GAL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6337069
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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