A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201489



Internal ID20768529
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 StatusS
Merged Variantsnsv6330528
Supporting Variants
Samples
Known GenesDHCR24
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201489
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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