A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17365570



Internal ID22591239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193105459..193107909hg38UCSC Ensembl
chr1:193074589..193077039hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg382451
hg192451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5879323
Supporting Variants
Samples
Known GenesGLRX2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17365570
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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