A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18051280



Internal ID20618320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119735672..119736157hg38UCSC Ensembl
chr1:120278295..120278780hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38486
hg19486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332932
Supporting Variants
Samples
Known GenesPHGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18051280
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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