A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712063



Internal ID135729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20244877..20955674hg38UCSC Ensembl
chr17:20148190..20858987hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38710798
hg19710798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524051
Supporting Variants
Samples
Known GenesCCDC144CP, CCDC144NL, CDRT15L2, KRT16P3, LGALS9B, LOC100287072, LOC440416, SPECC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712063
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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