A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17683823



Internal ID107489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203011665..203012103hg38UCSC Ensembl
chr1:202980793..202981231hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38439
hg19439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442739
Supporting Variants
Samples
Known GenesTMEM183A, TMEM183B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17683823
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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