A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17622458



Internal ID21814505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62036542..62036542hg38UCSC Ensembl
chr17:60113903..60113903hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6093053
Supporting Variants
Samples
Known GenesMED13
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17622458
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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