A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145606



Internal ID344811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28692105..28692783hg38UCSC Ensembl
chr17:27019123..27019801hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38679
hg19679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712374
Samples
Known GenesSUPT6H
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145606
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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