A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17350293



Internal ID22575962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205195959..205202286hg38UCSC Ensembl
chr1:205165087..205171414hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg386328
hg196328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5874174
Supporting Variants
Samples
Known GenesDSTYK
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17350293
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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