A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17529739



Internal ID21854096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202797058..202797058hg38UCSC Ensembl
chr1:202766186..202766186hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6051544
Supporting Variants
Samples
Known GenesKDM5B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17529739
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