A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714472



Internal ID138138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73128400..73131748hg38UCSC Ensembl
chr17:71124539..71127887hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg383349
hg193349
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5522025
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714472
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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