A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17520620



Internal ID21844979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94499189..94499189hg38UCSC Ensembl
chr1:94964745..94964745hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6045408
Supporting Variants
Samples
Known GenesABCD3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17520620
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