A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320147



Internal ID20853245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93830388..93836731hg38UCSC Ensembl
chr1:94295944..94302287hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg386344
hg196344
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203188
Samples
Known GenesBCAR3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320147
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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