A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715461



Internal ID139127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65536970..65537064hg38UCSC Ensembl
chr17:63533088..63533182hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517729
Supporting Variants
Samples
Known GenesAXIN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715461
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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