A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714689



Internal ID138355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76116377..76117388hg38UCSC Ensembl
chr17:74112458..74113469hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381012
hg191012
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5518801
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714689
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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