A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17366252



Internal ID22591921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172085436..172086289hg38UCSC Ensembl
chr1:172054576..172055429hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38854
hg19854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5876309
Supporting Variants
Samples
Known GenesDNM3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17366252
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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