A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17475544



Internal ID22533440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1728596..1729626hg38UCSC Ensembl
chr17:1631890..1632920hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381031
hg191031
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5872009
Supporting Variants
Samples
Known GenesWDR81
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17475544
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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