A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17411946



Internal ID22469816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156717803..156718933hg38UCSC Ensembl
chr5:156144814..156145944hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg381131
hg191131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5888489
Supporting Variants
Samples
Known GenesSGCD
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17411946
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