A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713299



Internal ID136965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44568939..44582251hg38UCSC Ensembl
chr17:42646307..42659619hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3813313
hg1913313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532139
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713299
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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