A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330225



Internal ID20863381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227302252..227466289hg38UCSC Ensembl
chr1:227489953..227653990hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38164038
hg19164038
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202719
Samples
Known GenesCDC42BPA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330225
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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