A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712348



Internal ID136014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28318716..28321753hg38UCSC Ensembl
chr17:26645742..26648779hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg383038
hg193038
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533679
Supporting Variants
Samples
Known GenesTMEM97
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712348
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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