A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17415081



Internal ID22472951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180948146..181003606hg38UCSC Ensembl
chr5:180375146..180430606hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3855461
hg1955461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5896132
Supporting Variants
Samples
Known GenesBTNL3, BTNL8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17415081
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