A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714020



Internal ID137686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63747999..63748119hg38UCSC Ensembl
chr17:61825359..61825479hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528770
Supporting Variants
Samples
Known GenesCCDC47
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714020
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.021549


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