A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712071



Internal ID135737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20345111..20545111hg38UCSC Ensembl
chr17:20248424..20448424hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38200001
hg19200001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526877
Supporting Variants
Samples
Known GenesCCDC144CP, KRT16P3, LGALS9B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712071
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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