A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18053152



Internal ID20620192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173993701..173999000hg38UCSC Ensembl
chr1:173962839..173968138hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg385300
hg195300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331830
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18053152
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00031


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