A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6322263



Internal ID20855375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243190114..243362494hg38UCSC Ensembl
chr1:243353416..243525796hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38172381
hg19172381
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200647
Samples
Known GenesCEP170, MIR4677, SDCCAG8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6322263
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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