A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724945



Internal ID148611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61220096..61229862hg38UCSC Ensembl
chr17:59297457..59307223hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg389767
hg199767
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519164
Supporting Variants
Samples
Known GenesBCAS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724945
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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