A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715618



Internal ID139284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81861133..81899133hg38UCSC Ensembl
chr17:79819009..79857009hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3838001
hg1938001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146104
Supporting Variants
Samples
Known GenesALYREF, ANAPC11, ARHGDIA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715618
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.041872


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer