A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6333285



Internal ID20866461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225819127..225834305hg38UCSC Ensembl
chr1:226006829..226022006hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3815179
hg1915178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18058380
Samples
Known GenesEPHX1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6333285
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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