A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713016



Internal ID136682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39154813..39168813hg38UCSC Ensembl
chr17:37311066..37325066hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3814001
hg1914001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531116
Supporting Variants
Samples
Known GenesARL5C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713016
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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