A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215035



Internal ID20782075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137116388..137126506hg38UCSC Ensembl
chr5:136452077..136462195hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3810119
hg1910119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6412716
Supporting Variants
Samples
Known GenesSPOCK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215035
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00036


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