A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18051281



Internal ID20618321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119767318..119769912hg38UCSC Ensembl
chr1:120309941..120312535hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg382595
hg192595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330789
Supporting Variants
Samples
Known GenesHMGCS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18051281
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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