A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712298



Internal ID135964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27533301..27533359hg38UCSC Ensembl
chr17:25860327..25860385hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532104
Supporting Variants
Samples
Known GenesKSR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712298
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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