A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18132331



Internal ID20699371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53076229..53076828hg38UCSC Ensembl
chr5:52372059..52372658hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6405149
Supporting Variants
Samples
Known GenesITGA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18132331
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00021


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