A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715628



Internal ID139294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81939133..81955133hg38UCSC Ensembl
chr17:79897009..79913009hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3816001
hg1916001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146165
Supporting Variants
Samples
Known GenesMYADML2, NOTUM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715628
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.008279


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