A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714633



Internal ID138299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75394983..75395195hg38UCSC Ensembl
chr17:73391064..73391276hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533837
Supporting Variants
Samples
Known GenesGRB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714633
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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