A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712820



Internal ID136486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35616601..35616688hg38UCSC Ensembl
chr17:33943620..33943707hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523527
Supporting Variants
Samples
Known GenesAP2B1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712820
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