A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713311



Internal ID136977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44713889..44719054hg38UCSC Ensembl
chr17:42791257..42796422hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385166
hg195166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5515206
Supporting Variants
Samples
Known GenesDBF4B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713311
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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