A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17466930



Internal ID22524821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242364933..242382853hg38UCSC Ensembl
chr1:242528235..242546155hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3817921
hg1917921
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5829581
Supporting Variants
Samples
Known GenesPLD5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17466930
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