A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6355215



Internal ID21012768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43763317..44075069hg38UCSC Ensembl
chr2:43990456..44302208hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38311753
hg19311753
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209778
Samples
Known GenesABCG5, ABCG8, DYNC2LI1, LRPPRC, PLEKHH2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6355215
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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