A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330528



Internal ID20863685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54882791..54896760hg38UCSC Ensembl
chr1:55348464..55362433hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3813970
hg1913970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201489
Samples
Known GenesDHCR24
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330528
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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