A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714578



Internal ID138244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74829324..74834417hg38UCSC Ensembl
chr17:72825463..72830556hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg385094
hg195094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516198
Supporting Variants
Samples
Known GenesTMEM104
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714578
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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