A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17365203



Internal ID22590872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204346270..204347709hg38UCSC Ensembl
chr1:204315398..204316837hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381440
hg191440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5870698
Supporting Variants
Samples
Known GenesPLEKHA6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17365203
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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