A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5900885



Internal ID22676032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49246130..49248072hg38UCSC Ensembl
chr3:49283563..49285505hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381943
hg191943
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17423661
Samples
Known GenesCCDC36
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5900885
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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