A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18054680



Internal ID20621720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182577138..182578710hg38UCSC Ensembl
chr1:182546273..182547845hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381573
hg191573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330715
Supporting Variants
Samples
Known GenesRNASEL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18054680
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0005


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