A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214490



Internal ID20781530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135399401..135411600hg38UCSC Ensembl
chr5:134735091..134747290hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3812200
hg1912200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6414326
Supporting Variants
Samples
Known GenesH2AFY
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214490
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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