A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17391602



Internal ID22449472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55096718..55109685hg38UCSC Ensembl
chr2:55323854..55336821hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3812968
hg1912968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5883814
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17391602
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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