A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6329654



Internal ID20862807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220040818..220041712hg38UCSC Ensembl
chr1:220214160..220215054hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38895
hg19895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18057870
Samples
Known GenesEPRS, RNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6329654
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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