A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336985



Internal ID20994538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:151162998..151263699hg38UCSC Ensembl
chr2:152019512..152120213hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38100702
hg19100702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205535
Samples
Known GenesRBM43
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6336985
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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