A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714732



Internal ID138398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76530950..76531013hg38UCSC Ensembl
chr17:74527032..74527095hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523731
Supporting Variants
Samples
Known GenesCYGB, PRCD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714732
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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