A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530075



Internal ID306071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15423318..15694546hg38UCSC Ensembl
chr17:15326635..15597860hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38271229
hg19271226
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711687
Samples
Known GenesCDRT1, CDRT4, TRIM16, TVP23C, TVP23C-CDRT4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530075
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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