A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17468108



Internal ID22525997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205195939..205202267hg38UCSC Ensembl
chr1:205165067..205171395hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg386329
hg196329
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5829165
Supporting Variants
Samples
Known GenesDSTYK
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17468108
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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